{ "total_tables": 235, "categories": [ "Clinical & Phenomics", "Chromosome Architecture", "Gene Panels & Interactome", "Mosaicism Spectrum", "ACMG & In Silico Predictors", "Precision Oncology & Pharma", "Cytogenetics & Aneuploidy", "Sequencing & Flowcell QC", "Biophysical Kinetics", "Comparative Oncology Cohorts" ], "tables": [ { "id": "clin_01_hpo_ontological_ic", "category": "Clinical & Phenomics", "title": "HPO Ontological Hierarchy & Information Content Scoring", "description": "Ontological ancestry paths and calculated Information Content (IC) for proband clinical manifestations.", "row_count": 8, "columns_count": 6, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_02_classical_triad_scoring", "category": "Clinical & Phenomics", "title": "Classical MVA Diagnostic Triad Multi-Subtype Scoring", "description": "Quantitative matching of patient findings against diagnostic hallmarks across MVA Subtypes 1 through 4.", "row_count": 5, "columns_count": 7, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_03_growth_fenton_trajectories", "category": "Clinical & Phenomics", "title": "Gestational & Postnatal Growth Percentile Trajectory Audit", "description": "Anthropometric Z-scores and growth percentile deviations mapped against Fenton 2013 Preterm standards.", "row_count": 5, "columns_count": 6, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_04_erms_histopathology", "category": "Clinical & Phenomics", "title": "Embryonal Rhabdomyosarcoma (ERMS) Histopathology & Molecular Markers", "description": "Histopathological examination, immunohistochemical profiling, and genetic fusion status of patient tumor.", "row_count": 6, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_05_nephrocalcinosis_ultrasound", "category": "Clinical & Phenomics", "title": "Congenital Medullary Nephrocalcinosis Staging & Renal Sonography", "description": "Renal ultrasound grading, parenchymal echogenicity, and corticomedullary differentiation metrics.", "row_count": 5, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_06_calcium_phosphate_handling", "category": "Clinical & Phenomics", "title": "Renal Tubular Calcium & Phosphate Handling Biomarker Profile", "description": "Serum electrolytes, fractional excretion indices, and urinary tubular transport metrics in proband.", "row_count": 6, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_07_parental_recurrent_rpl", "category": "Clinical & Phenomics", "title": "Parental Recurrent Pregnancy Loss & Meiotic Nondisjunction History", "description": "Reproductive genetic history, parental karyotypes, and chromosomal meiotic segregation failure analysis.", "row_count": 4, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_08_satellite_cell_atrophy", "category": "Clinical & Phenomics", "title": "Skeletal Muscle Satellite Cell Depletion & Muscle Caliber Profile", "description": "Myogenic stem cell proliferation capacity, muscle fiber caliber, and sarcomeric integrity in proband.", "row_count": 4, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_09_microcephaly_neurodevelopment", "category": "Clinical & Phenomics", "title": "Congenital Microcephaly & Cortical Neurogenesis Vulnerability", "description": "Radial glial cell division kinetics, cerebral cortex thickness, and neurodevelopmental tracking.", "row_count": 4, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_10_wilms_nephroblastomatosis", "category": "Clinical & Phenomics", "title": "Wilms Tumor vs Nephroblastomatosis Predisposition Index", "description": "Nephrogenic rest surveillance, WT1 locus variant screening, and renal neoplasia risk stratification.", "row_count": 3, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_11_leukemogenesis_mds_risk", "category": "Clinical & Phenomics", "title": "Hematopoietic Clonal Instability & Bone Marrow Surveillance", "description": "Peripheral blood smear cytogenetics, cytopenias, and clonal hematopoiesis surveillance metrics.", "row_count": 5, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_12_pan_cancer_surveillance", "category": "Clinical & Phenomics", "title": "Comprehensive Pediatric Pan-Cancer Surveillance Schedule", "description": "Evidence-based screening modalities, target organ systems, and surveillance frequency recommendations.", "row_count": 5, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_13_confined_placental_mosaicism", "category": "Clinical & Phenomics", "title": "Confined Placental Mosaicism (CPM) vs Embryonic Aneuploidy Discrimination", "description": "Chorionic villus sampling vs amniocyte discordance models in prenatal growth restriction.", "row_count": 3, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_14_gh_igf1_endocrine_axis", "category": "Clinical & Phenomics", "title": "Hypothalamic-Pituitary-IGF1 Growth Axis Evaluation in MVA", "description": "Endocrine hormone levels, growth hormone responsiveness, and cellular growth resistance indices.", "row_count": 4, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_15_craniofacial_metrics", "category": "Clinical & Phenomics", "title": "Craniofacial Dysmorphic Measurements & Anthropometric Facial Indices", "description": "Facial landmark dimensions, canthal distances, and palpebral fissure measurements.", "row_count": 5, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_16_ophthalmic_cataracts_screen", "category": "Clinical & Phenomics", "title": "Ophthalmic & Retinal Aneuploidy Manifestation Screen", "description": "Slit-lamp examination, corneal diameter, fundoscopy, and visual evoked potential findings.", "row_count": 4, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_17_cardiovascular_echocardiogram", "category": "Clinical & Phenomics", "title": "Congenital Cardiovascular Screening & Echocardiography Matrix", "description": "Doppler echocardiography, great vessel branching, and valvular structural evaluation in proband.", "row_count": 5, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_18_lymphocyte_senescence", "category": "Clinical & Phenomics", "title": "Immune System T/B Cell Senescence & Lymphocyte Kinetics", "description": "Flow cytometry lymphocyte subsets, immunoglobulin levels, and cellular senescence markers in MVA.", "row_count": 6, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_19_dermatoglyphics_palmar_crease", "category": "Clinical & Phenomics", "title": "Dermatoglyphic Patterns & Minor Physical Aneuploidy Anomaly Audit", "description": "Palmar crease patterns, fingertip ridge configurations, and axial triradius positions.", "row_count": 4, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_20_hepatic_function_matrix", "category": "Clinical & Phenomics", "title": "Hepatic Parenchymal Function & Microvesicular Stability Matrix", "description": "Liver enzymes, synthetic coagulopathy markers, and ultrasound parenchymal assessment in MVA.", "row_count": 5, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_21_gastrointestinal_motility", "category": "Clinical & Phenomics", "title": "Gastrointestinal Autonomic Innervation & Motility Biomarkers", "description": "Enteric neuronal migration, abdominal radiograph findings, and caloric absorption kinetics.", "row_count": 4, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_22_adrenal_stress_cortisol", "category": "Clinical & Phenomics", "title": "Adrenocortical Function & Stress Response Biomarker Profile", "description": "Basal cortisol, ACTH stimulation, and mineralocorticoid steroidogenesis in proband.", "row_count": 5, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_23_radiosensitivity_guidelines", "category": "Clinical & Phenomics", "title": "Constitutional Radiosensitivity & Diagnostic Genotoxic Precautions", "description": "Radiation exposure safety thresholds, chromosomal break induction, and imaging guidelines for MVA.", "row_count": 4, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_24_familial_recurrence_counseling", "category": "Clinical & Phenomics", "title": "Autosomal Recessive vs De Novo Germline Mosaicism Recurrence Risk", "description": "Mendelian inheritance models, parental carrier status, and recurrence risk for future pregnancies.", "row_count": 4, "columns_count": 5, "tags": [ "Clinical", "Phenomics" ] }, { "id": "clin_25_bayesian_differential_model", "category": "Clinical & Phenomics", "title": "Multi-Feature Bayesian Diagnostic Posterior Probability Model", "description": "Bayesian posterior likelihood cross-matching for 12 rare syndromes presenting with growth restriction and tumors.", "row_count": 8, "columns_count": 6, "tags": [ "Clinical", "Phenomics" ] }, { "id": "chr_chr1_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR1 Fine-Grained Architecture & Locus Dynamics", "description": "Largest autosome; contains CENPF corona kinesin-adapter and 1p36 subtelomeric fragile region. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR1.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr1", "Genomics" ] }, { "id": "chr_chr2_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR2 Fine-Grained Architecture & Locus Dynamics", "description": "Harbors BUB1 kinetochore kinase and ancient 2q13 hominid fusion telomeric junction. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR2.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr2", "Genomics" ] }, { "id": "chr_chr3_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR3 Fine-Grained Architecture & Locus Dynamics", "description": "Harbors FRA3B common fragile site; high sensitivity to aphidicolin replication stress. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR3.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr3", "Genomics" ] }, { "id": "chr_chr4_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR4 Fine-Grained Architecture & Locus Dynamics", "description": "Key checkpoint chromosome; encodes MAD2L1 spindle clamp and CENPE plus-end motor. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR4.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr4", "Genomics" ] }, { "id": "chr_chr5_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR5 Fine-Grained Architecture & Locus Dynamics", "description": "Critical MVA3 locus; harbors TRIP13 AAA+ ATPase disassembler and 5p telomerase core. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR5.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr5", "Genomics" ] }, { "id": "chr_chr6_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR6 Fine-Grained Architecture & Locus Dynamics", "description": "MHC immunological cluster and FRA6E fragile site; high somatic copy-number stability. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR6.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr6", "Genomics" ] }, { "id": "chr_chr7_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR7 Fine-Grained Architecture & Locus Dynamics", "description": "Encodes MAD1L1 kinetochore anchor dimer; frequent aneuploid missegregation in MVA. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR7.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr7", "Genomics" ] }, { "id": "chr_chr8_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR8 Fine-Grained Architecture & Locus Dynamics", "description": "High constitutional trisomy 8 variegation in MVA lymphocytes; MYC oncogene hub. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR8.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr8", "Genomics" ] }, { "id": "chr_chr9_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR9 Fine-Grained Architecture & Locus Dynamics", "description": "Encodes SMC5 chromosome decatenation subunit and 9q12 Satellite III pericentric heterochromatin. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR9.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr9", "Genomics" ] }, { "id": "chr_chr10_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR10 Fine-Grained Architecture & Locus Dynamics", "description": "Encodes BUB3 WD40 propeller scaffold and ZWINT KNL1-docking structural component. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR10.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr10", "Genomics" ] }, { "id": "chr_chr11_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR11 Fine-Grained Architecture & Locus Dynamics", "description": "Critical MVA2 locus; encodes CEP57 centriolar anchor and 11p15.5 imprinting cluster. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR11.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr11", "Genomics" ] }, { "id": "chr_chr12_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR12 Fine-Grained Architecture & Locus Dynamics", "description": "12q14 amplicon hub; harbors KRAS signaling and CDK4/MDM2 cell cycle machinery. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR12.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr12", "Genomics" ] }, { "id": "chr_chr13_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR13 Fine-Grained Architecture & Locus Dynamics", "description": "Acrocentric autosome with NOR rDNA arrays; harbors RB1 tumor suppressor and FOXO1 RMS locus. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR13.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr13", "Genomics" ] }, { "id": "chr_chr14_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR14 Fine-Grained Architecture & Locus Dynamics", "description": "Encodes DICER1 microRNA processing endoribonuclease and immunoglobulin heavy chain locus. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR14.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr14", "Genomics" ] }, { "id": "chr_chr15_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR15 Fine-Grained Architecture & Locus Dynamics", "description": "Primary MVA1 master locus; encodes BUB1B/BUBR1 spindle assembly checkpoint kinase. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR15.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr15", "Genomics" ] }, { "id": "chr_chr16_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR16 Fine-Grained Architecture & Locus Dynamics", "description": "Encodes PLK1 Polo-like master mitotic kinase and 16q23.2 FRA16D fragile region. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR16.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr16", "Genomics" ] }, { "id": "chr_chr17_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR17 Fine-Grained Architecture & Locus Dynamics", "description": "Harbors TP53 guardian of the genome; frequent 17p LOH in rhabdomyosarcoma progression. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR17.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr17", "Genomics" ] }, { "id": "chr_chr18_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR18 Fine-Grained Architecture & Locus Dynamics", "description": "Critical MVA4 locus; encodes CEP192 pericentriolar PCM scaffold and Aurora A recruiter. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR18.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr18", "Genomics" ] }, { "id": "chr_chr19_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR19 Fine-Grained Architecture & Locus Dynamics", "description": "Highest gene and variant density in human genome (1,922 / Mb); GC-rich isochore core. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR19.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr19", "Genomics" ] }, { "id": "chr_chr20_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR20 Fine-Grained Architecture & Locus Dynamics", "description": "Encodes AURKA Aurora Kinase A; centrosome maturation and spindle bipolarity hub. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR20.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr20", "Genomics" ] }, { "id": "chr_chr21_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR21 Fine-Grained Architecture & Locus Dynamics", "description": "Smallest acrocentric autosome; Down syndrome critical region and Robertsonian partner. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR21.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr21", "Genomics" ] }, { "id": "chr_chr22_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHR22 Fine-Grained Architecture & Locus Dynamics", "description": "Acrocentric chromosome; encodes CHEK2 checkpoint kinase and BCR-ABL translocation site. Analysis of variant density, SNV/Indel balance, and candidate loci on CHR22.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chr22", "Genomics" ] }, { "id": "chr_chrX_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHRX Fine-Grained Architecture & Locus Dynamics", "description": "Sex chromosome; subject to X-inactivation; frequent variegated loss in MVA lymphocytes. Analysis of variant density, SNV/Indel balance, and candidate loci on CHRX.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chrX", "Genomics" ] }, { "id": "chr_chrY_structural_architecture", "category": "Chromosome Architecture", "title": "Chromosome CHRY Fine-Grained Architecture & Locus Dynamics", "description": "Heterochromatic male sex chromosome; high somatic loss-of-Y (LOY) rate in aneuploid clones. Analysis of variant density, SNV/Indel balance, and candidate loci on CHRY.", "row_count": 5, "columns_count": 5, "tags": [ "Chromosome", "chrY", "Genomics" ] }, { "id": "chr_cin70_burden_scores", "category": "Chromosome Architecture", "title": "CIN70 Chromosomal Instability Mutational Signature Scoring", "description": "Mutational burden, VAF values, and GATK quality metrics across the classic 70-gene CIN70 signature.", "row_count": 9, "columns_count": 6, "tags": [ "CIN70", "Chromosomal Instability", "Signatures" ] }, { "id": "chr_cosmic_sbs_profiles", "category": "Chromosome Architecture", "title": "COSMIC Single Base Substitution (SBS) Mutational Signatures in MVA", "description": "Decomposition of patient whole-genome SNV callset into standard COSMIC v3.3 trinucleotide mutational signatures.", "row_count": 5, "columns_count": 6, "tags": [ "COSMIC", "Mutational Signatures", "Trinucleotide" ] }, { "id": "chr_cn_loh_recombination_map", "category": "Chromosome Architecture", "title": "Segmental Copy-Neutral Loss-of-Heterozygosity (CN-LOH) Loci", "description": "Contiguous homozygous variant stretches identifying mitotic recombination and uniparental disomy intervals.", "row_count": 5, "columns_count": 6, "tags": [ "LOH", "Mitotic Recombination", "Copy Neutral" ] }, { "id": "chr_pericentromeric_satellite_fragility", "category": "Chromosome Architecture", "title": "Pericentromeric Heterochromatin Satellite Repeat Fragility Audit", "description": "Satellite II/III repeat stability, classical centromere constriction, and pericentromeric variant clustering.", "row_count": 4, "columns_count": 6, "tags": [ "Heterochromatin", "Pericentromere", "Satellite Repeats" ] }, { "id": "chr_subtelomeric_recomb_caps", "category": "Chromosome Architecture", "title": "Subtelomeric Recombination Hotspots & Terminal Cap Integrity", "description": "Terminal 2Mb repeat content, telomeric variant density, and subtelomeric rearrangement hotspots.", "row_count": 4, "columns_count": 6, "tags": [ "Subtelomeres", "Recombination", "Caps" ] }, { "id": "chr_cfs_breakage_indices", "category": "Chromosome Architecture", "title": "Common Fragile Sites (CFS) Breakage Susceptibility Index", "description": "Genomic coordinates of aphidicolin-sensitive common fragile sites and structural break vulnerability in MVA.", "row_count": 4, "columns_count": 6, "tags": [ "Fragile Sites", "Replication Stress", "Breaks" ] }, { "id": "mit_bub1b_pseudokinase_clamp", "category": "Gene Panels & Interactome", "title": "BUB1B / BUBR1 Pseudokinase Domain & CDC20 Clamping Kinetics", "description": "BUBR1 TPR motifs, KARD phospho-domain, and CDC20 binding clamp.", "row_count": 4, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "BUB1B" ] }, { "id": "mit_cep57_centriole_inner_barrel", "category": "Gene Panels & Interactome", "title": "CEP57 Centriolar Inner Barrel Attachment & Tubulin Nucleation", "description": "CEP57 coiled-coil inner wall anchoring and MVA2 nephrocalcinosis.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "CEP57" ] }, { "id": "mit_trip13_aaa_atpase_hexamer", "category": "Gene Panels & Interactome", "title": "TRIP13 AAA+ ATPase Hexameric Disassembly Engine", "description": "ATP-dependent unfolding of C-MAD2 and mosaic somatic driver mechanics.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "TRIP13" ] }, { "id": "mit_cep192_pcm_aurora_recruitment", "category": "Gene Panels & Interactome", "title": "CEP192 Pericentriolar Matrix Scaffold & Kinase Co-Recruitment", "description": "Centrosomal recruitment of AURKA and PLK1 in spindle bipolarity.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "CEP192" ] }, { "id": "mit_mad1l1_kinetochore_docking", "category": "Gene Panels & Interactome", "title": "MAD1L1 Coiled-Coil Dimerization & Kinetochore Corona Anchor", "description": "MAD1-MAD2 catalytic template and corona expansion.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "MAD1L1" ] }, { "id": "mit_mad2l1_topological_safety_belt", "category": "Gene Panels & Interactome", "title": "MAD2L1 Topological Clamp & CDC20 Entrapment Dynamics", "description": "Open-to-closed conformer transition and APC/C inhibition.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "MAD2L1" ] }, { "id": "mit_bub1_melt_phospho_cascade", "category": "Gene Panels & Interactome", "title": "BUB1 Kinase & KNL1 MELT Phosphorylation Hierarchy", "description": "Multi-site phosphorylation of KNL1 coordinating outer kinetochore assembly.", "row_count": 4, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "BUB1" ] }, { "id": "mit_bub3_wd40_beta_propeller", "category": "Gene Panels & Interactome", "title": "BUB3 7-Bladed WD40 \u03b2-Propeller & Phospho-MELT Reader", "description": "Structural recognition of phosphorylated MELT motifs on KNL1.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "BUB3" ] }, { "id": "mit_cenpe_kinesin7_translocation", "category": "Gene Panels & Interactome", "title": "CENPE Kinesin-7 Motor Mechanics & Chromosome Congression", "description": "Single-molecule stepping kinetics and metaphase alignment.", "row_count": 4, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "CENPE" ] }, { "id": "mit_cenpf_corona_farnesylation", "category": "Gene Panels & Interactome", "title": "CENPF C-Terminal Farnesylation & Dynein Cargo Coupling", "description": "Outer corona structural expansion and Dynein-Dynactin recruitment.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "CENPF" ] }, { "id": "mit_aurka_tpx2_spindle_bipolarity", "category": "Gene Panels & Interactome", "title": "Aurora Kinase A - TPX2 Allosteric Spindle Pole Organizer", "description": "Centrosome maturation, spindle pole separation, and bipolarity.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "AURKA" ] }, { "id": "mit_plk1_polo_box_substrate_docking", "category": "Gene Panels & Interactome", "title": "PLK1 Polo-Box Domain Phosphopeptide Recognition", "description": "Polo-box phosphopeptide docking and mitotic entry orchestration.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "PLK1" ] }, { "id": "mit_smc5_smc6_cohesin_decatenation", "category": "Gene Panels & Interactome", "title": "SMC5/6 Complex & Post-Replicative Decatenation Checkpoint", "description": "Topoisomerase II assistance and chromosome arm resolution.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "SMC5" ] }, { "id": "mit_rad21_stag2_sister_cohesion", "category": "Gene Panels & Interactome", "title": "RAD21 / STAG2 Cohesin Ring Structure & Separase Cleavage", "description": "Centromeric sister chromatid cohesion and anaphase trigger.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "RAD21" ] }, { "id": "mit_sgo1_shugoshin_pp2a_protection", "category": "Gene Panels & Interactome", "title": "SGO1 (Shugoshin) / PP2A Centromeric Cohesion Protector", "description": "Protection of centromeric cohesin against prophase removal pathway.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "SGO1" ] }, { "id": "mit_haspin_histone_h3t3_cpc_docking", "category": "Gene Panels & Interactome", "title": "Haspin Kinase Phosphorylation of H3T3 & CPC Kinetochore Docking", "description": "Centromeric targeting of the Chromosomal Passenger Complex (CPC).", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "HASPIN" ] }, { "id": "mit_aurkb_borealin_survivin_incenp", "category": "Gene Panels & Interactome", "title": "Aurora B Chromosomal Passenger Complex (CPC) Tension Sensing", "description": "Phosphorylation of Ndc80 tail and error correction of syntelic attachments.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "AURKB" ] }, { "id": "mit_mps1_ttk_activation_loop", "category": "Gene Panels & Interactome", "title": "MPS1 / TTK Kinase Autophosphorylation & Checkpoint Initiation", "description": "Kinetochore recruitment and MELT phosphorylation initiation.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "MPS1" ] }, { "id": "mit_zw10_rod_zwilch_rzz_complex", "category": "Gene Panels & Interactome", "title": "RZZ Complex (ROD-ZW10-Zwilch) & Kinetochore Corona Assembly", "description": "Outer corona expansion and Spindly-Dynein adapter docking.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "ZW10" ] }, { "id": "mit_spindly_dynein_sac_stripping", "category": "Gene Panels & Interactome", "title": "Spindly Adapter & Dynein-Mediated Checkpoint Protein Stripping", "description": "Mechanical transport of MAD2/BUBR1 along microtubules to centrosomes.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "SPINDLY" ] }, { "id": "mit_apc_c_cdc20_cdh1_degron_selection", "category": "Gene Panels & Interactome", "title": "APC/C E3 Ubiquitin Ligase D-Box & KEN-Box Degron Selection", "description": "Ubiquitination of Securin and Cyclin B1 for anaphase onset.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "APC" ] }, { "id": "mit_securin_pttgl1_separase_inhibitor", "category": "Gene Panels & Interactome", "title": "Securin (PTTG1) Degradation & Separase Protease Activation", "description": "Release of active Separase to cleave RAD21 cohesin rings.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "SECURIN" ] }, { "id": "mit_cyclin_b1_ccnb1_cdk1_clearance", "category": "Gene Panels & Interactome", "title": "Cyclin B1 / CDK1 Kinase Clearance Dynamics at Metaphase Exit", "description": "Dephosphorylation cascade driving mitotic spindle disassembly.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "CYCLIN" ] }, { "id": "mit_p31comet_mad2l1bp_trip13_dock", "category": "Gene Panels & Interactome", "title": "p31(comet) Adapter Docking to Closed-MAD2 for TRIP13 Unfolding", "description": "Structural adapter driving SAC silencing and checkpoint inactivation.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "P31COMET" ] }, { "id": "mit_ndc80_hec1_microtubule_coupling", "category": "Gene Panels & Interactome", "title": "Ndc80 (Hec1) Microtubule Coupling & Tension Elasticity", "description": "Calponin homology domain binding to tubulin protofilaments.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "NDC80" ] }, { "id": "mit_knl1_casc5_melt_array_scaffold", "category": "Gene Panels & Interactome", "title": "KNL1 (CASC5) Multiple MELT Repeat Structural Scaffold", "description": "Intrinsically disordered docking platform for BUB3-BUBR1 complexes.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "KNL1" ] }, { "id": "mit_mis12_dsn1_nsl1_pmf1_linker", "category": "Gene Panels & Interactome", "title": "Mis12 Complex Molecular Linker Between CENP-C and Ndc80", "description": "Four-subunit bridging complex connecting inner centromere to outer plate.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "MIS12" ] }, { "id": "mit_cenpa_histone_h3_variant_nucleosome", "category": "Gene Panels & Interactome", "title": "CENP-A Centromeric Histone H3 Variant & Epigenetic Centromere", "description": "Epigenetic specification of kinetochore assembly loci on satellite DNA.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "CENPA" ] }, { "id": "mit_cenpc_inner_kinetochore_cup", "category": "Gene Panels & Interactome", "title": "CENP-C Central Kinetochore Hub & Mis12-CENPA Bridging", "description": "Direct interaction bridging CENP-A nucleosomes to outer Mis12 complex.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "CENPC" ] }, { "id": "mit_cenpt_inner_kinetochore_pathway", "category": "Gene Panels & Interactome", "title": "CENP-T Centromeric DNA-Binding & Direct Ndc80 Recruitment", "description": "Alternative non-Mis12 pathway for outer kinetochore microtubule tethering.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "CENPT" ] }, { "id": "mit_kif2c_mcak_microtubule_depolymerase", "category": "Gene Panels & Interactome", "title": "KIF2C (MCAK) Kinetochore Microtubule Depolymerase", "description": "Error correction of merotelic and syntelic microtubule-kinetochore attachments.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "KIF2C" ] }, { "id": "mit_clasp1_clasp2_microtubule_plus_end", "category": "Gene Panels & Interactome", "title": "CLASP1 / CLASP2 Kinetochore Plus-End Microtubule Rescuers", "description": "Promotion of microtubule rescue and stabilization under tension.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "CLASP1" ] }, { "id": "mit_kif18a_kinesin8_length_dependent_motor", "category": "Gene Panels & Interactome", "title": "KIF18A Kinesin-8 Length-Dependent Microtubule Depolymerase", "description": "Dampening of chromosome oscillations and metaphase alignment confinement.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "KIF18A" ] }, { "id": "mit_chmp4b_escrt_iii_micronucleus_repair", "category": "Gene Panels & Interactome", "title": "ESCRT-III (CHMP4B) Micronuclear Envelope Repair Complex", "description": "Sealing of ruptured micronuclear envelopes to prevent DNA damage.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "CHMP4B" ] }, { "id": "mit_trex1_micronuclear_dna_exonuclease", "category": "Gene Panels & Interactome", "title": "TREX1 Endoplasmic Reticulum DNA Exonuclease & cGAS Degradation", "description": "Cleavage of shattered micronuclear DNA fragments upon envelope collapse.", "row_count": 3, "columns_count": 6, "tags": [ "Gene Panel", "Mitotic Checkpoint", "TREX1" ] }, { "id": "mos_strata_vaf_bin_01", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 01: TRIP13 c.1060G>A (27.8% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for TRIP13 c.1060G>A.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "TRIP13" ] }, { "id": "mos_strata_vaf_bin_02", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 02: BUB1B c.1972C>T (51.4% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for BUB1B c.1972C>T.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "BUB1B" ] }, { "id": "mos_strata_vaf_bin_03", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 03: CEP57 c.403C>T (51.4% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for CEP57 c.403C>T.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "CEP57" ] }, { "id": "mos_strata_vaf_bin_04", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 04: MAD1L1 c.1852C>T (22.2% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for MAD1L1 c.1852C>T.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "MAD1L1" ] }, { "id": "mos_strata_vaf_bin_05", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 05: CEP192 c.1504G>A (18.5% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for CEP192 c.1504G>A.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "CEP192" ] }, { "id": "mos_strata_vaf_bin_06", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 06: TP53 c.524G>A (34.2% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for TP53 c.524G>A.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "TP53" ] }, { "id": "mos_strata_vaf_bin_07", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 07: WT1 c.1180C>T (14.8% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for WT1 c.1180C>T.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "WT1" ] }, { "id": "mos_strata_vaf_bin_08", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 08: DICER1 c.5438A>G (11.2% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for DICER1 c.5438A>G.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "DICER1" ] }, { "id": "mos_strata_vaf_bin_09", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 09: CENPE c.7123G>A (48.9% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for CENPE c.7123G>A.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "CENPE" ] }, { "id": "mos_strata_vaf_bin_10", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 10: CENPF c.5461C>T (16.4% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for CENPF c.5461C>T.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "CENPF" ] }, { "id": "mos_strata_vaf_bin_11", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 11: PLK1 c.628G>A (9.5% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for PLK1 c.628G>A.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "PLK1" ] }, { "id": "mos_strata_vaf_bin_12", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 12: AURKA c.883A>G (100.0% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for AURKA c.883A>G.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "AURKA" ] }, { "id": "mos_strata_vaf_bin_13", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 13: SMC5 c.1441G>A (8.2% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for SMC5 c.1441G>A.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "SMC5" ] }, { "id": "mos_strata_vaf_bin_14", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 14: RAD21 c.1105C>T (6.4% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for RAD21 c.1105C>T.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "RAD21" ] }, { "id": "mos_strata_vaf_bin_15", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 15: SGO1 c.892A>G (5.1% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for SGO1 c.892A>G.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "SGO1" ] }, { "id": "mos_strata_vaf_bin_16", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 16: MPS1 c.2026A>T (4.3% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for MPS1 c.2026A>T.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "MPS1" ] }, { "id": "mos_strata_vaf_bin_17", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 17: ZWINT c.421G>A (3.8% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for ZWINT c.421G>A.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "ZWINT" ] }, { "id": "mos_strata_vaf_bin_18", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 18: KIF2C c.1684C>T (42.1% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for KIF2C c.1684C>T.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "KIF2C" ] }, { "id": "mos_strata_vaf_bin_19", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 19: CLASP1 c.2842G>A (31.5% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for CLASP1 c.2842G>A.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "CLASP1" ] }, { "id": "mos_strata_vaf_bin_20", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 20: KIF18A c.1340A>G (25.0% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for KIF18A c.1340A>G.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "KIF18A" ] }, { "id": "mos_strata_vaf_bin_21", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 21: CHMP4B c.412C>T (19.8% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for CHMP4B c.412C>T.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "CHMP4B" ] }, { "id": "mos_strata_vaf_bin_22", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 22: TREX1 c.589G>A (13.5% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for TREX1 c.589G>A.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "TREX1" ] }, { "id": "mos_strata_vaf_bin_23", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 23: BUB3 c.385A>G (7.8% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for BUB3 c.385A>G.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "BUB3" ] }, { "id": "mos_strata_vaf_bin_24", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 24: MAD2L1 c.398G>A (52.1% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for MAD2L1 c.398G>A.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "MAD2L1" ] }, { "id": "mos_strata_vaf_bin_25", "category": "Mosaicism Spectrum", "title": "Mosaicism Stratum 25: APC c.4348C>T (2.9% VAF) Lineage Profile", "description": "Allelic fraction quantification, sequencing read support, and lineage allocation for APC c.4348C>T.", "row_count": 4, "columns_count": 7, "tags": [ "Mosaicism", "VAF", "APC" ] }, { "id": "acmg_predictor_evaluation_01", "category": "ACMG & In Silico Predictors", "title": "AlphaMissense Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for AlphaMissense.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "AlphaMissense" ] }, { "id": "acmg_predictor_evaluation_02", "category": "ACMG & In Silico Predictors", "title": "REVEL Ensemble Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for REVEL Ensemble.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "REVEL" ] }, { "id": "acmg_predictor_evaluation_03", "category": "ACMG & In Silico Predictors", "title": "CADD Phred v1.6 Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for CADD Phred v1.6.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "CADD" ] }, { "id": "acmg_predictor_evaluation_04", "category": "ACMG & In Silico Predictors", "title": "SpliceAI CNN Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for SpliceAI CNN.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "SpliceAI" ] }, { "id": "acmg_predictor_evaluation_05", "category": "ACMG & In Silico Predictors", "title": "PrimateAI-3D Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for PrimateAI-3D.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "PrimateAI-3D" ] }, { "id": "acmg_predictor_evaluation_06", "category": "ACMG & In Silico Predictors", "title": "ESM-1b Transformer Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for ESM-1b Transformer.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "ESM-1b" ] }, { "id": "acmg_predictor_evaluation_07", "category": "ACMG & In Silico Predictors", "title": "ClinPred Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for ClinPred.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "ClinPred" ] }, { "id": "acmg_predictor_evaluation_08", "category": "ACMG & In Silico Predictors", "title": "MPC Sub-Genic Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for MPC Sub-Genic.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "MPC" ] }, { "id": "acmg_predictor_evaluation_09", "category": "ACMG & In Silico Predictors", "title": "MTR Sliding Window Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for MTR Sliding Window.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "MTR" ] }, { "id": "acmg_predictor_evaluation_10", "category": "ACMG & In Silico Predictors", "title": "GERP++ Conservation Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for GERP++ Conservation.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "GERP++" ] }, { "id": "acmg_predictor_evaluation_11", "category": "ACMG & In Silico Predictors", "title": "PhyloP 100-Way Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for PhyloP 100-Way.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "PhyloP" ] }, { "id": "acmg_predictor_evaluation_12", "category": "ACMG & In Silico Predictors", "title": "PhastCons Mammals Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for PhastCons Mammals.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "PhastCons" ] }, { "id": "acmg_predictor_evaluation_13", "category": "ACMG & In Silico Predictors", "title": "MutationTaster2 Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for MutationTaster2.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "MutationTaster2" ] }, { "id": "acmg_predictor_evaluation_14", "category": "ACMG & In Silico Predictors", "title": "FATHMM-XF Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for FATHMM-XF.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "FATHMM-XF" ] }, { "id": "acmg_predictor_evaluation_15", "category": "ACMG & In Silico Predictors", "title": "PROVEAN Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for PROVEAN.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "PROVEAN" ] }, { "id": "acmg_predictor_evaluation_16", "category": "ACMG & In Silico Predictors", "title": "SIFT4G Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for SIFT4G.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "SIFT4G" ] }, { "id": "acmg_predictor_evaluation_17", "category": "ACMG & In Silico Predictors", "title": "PolyPhen-2 HVAR Pathogenicity Calibration & Machine Learning Performance", "description": "Deleterious threshold calibrations, specificity, and ROC performance for PolyPhen-2 HVAR.", "row_count": 4, "columns_count": 6, "tags": [ "ACMG", "InSilico", "PolyPhen-2" ] }, { "id": "acmg_predictor_evaluation_18", "category": "ACMG & In Silico Predictors", "title": "VEST4 Forest Pathogenicity Calibration & Machine Learning 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"columns_count": 6, "tags": [ "Sequencing QC", "NovaSeq", "Exonic" ] }, { "id": "qc_telemetry_matrix_13", "category": "Sequencing & Flowcell QC", "title": "Flowcell Telemetry 13: GC Bias Coverage Curve", "description": "Detailed sequencing quality metrics, physical telemetry, and compliance benchmarks for GC Bias Coverage Curve.", "row_count": 4, "columns_count": 6, "tags": [ "Sequencing QC", "NovaSeq", "GC" ] }, { "id": "qc_telemetry_matrix_14", "category": "Sequencing & Flowcell QC", "title": "Flowcell Telemetry 14: Mismatch Noise Floor", "description": "Detailed sequencing quality metrics, physical telemetry, and compliance benchmarks for Mismatch Noise Floor.", "row_count": 4, "columns_count": 6, "tags": [ "Sequencing QC", "NovaSeq", "Mismatch" ] }, { "id": "qc_telemetry_matrix_15", "category": "Sequencing & Flowcell QC", "title": "Flowcell Telemetry 15: Indel Size Distribution", "description": "Detailed sequencing quality metrics, physical telemetry, and compliance benchmarks for Indel Size Distribution.", "row_count": 4, "columns_count": 6, "tags": [ "Sequencing QC", "NovaSeq", "Indel" ] }, { "id": "qc_telemetry_matrix_16", "category": "Sequencing & Flowcell QC", "title": "Flowcell Telemetry 16: Ti/Tv Mutation Ratio", "description": "Detailed sequencing quality metrics, physical telemetry, and compliance benchmarks for Ti/Tv Mutation Ratio.", "row_count": 4, "columns_count": 6, "tags": [ "Sequencing QC", "NovaSeq", "Ti/Tv" ] }, { "id": "qc_telemetry_matrix_17", "category": "Sequencing & Flowcell QC", "title": "Flowcell Telemetry 17: dbSNP 156 Concordance", "description": "Detailed sequencing quality metrics, physical telemetry, and compliance benchmarks for dbSNP 156 Concordance.", "row_count": 4, "columns_count": 6, "tags": [ "Sequencing QC", "NovaSeq", "dbSNP" ] }, { "id": "qc_telemetry_matrix_18", "category": "Sequencing & Flowcell QC", "title": "Flowcell Telemetry 18: Chimeric Split-Reads", "description": "Detailed sequencing quality metrics, physical telemetry, and compliance benchmarks for Chimeric Split-Reads.", "row_count": 4, "columns_count": 6, "tags": [ "Sequencing QC", "NovaSeq", "Chimeric" ] }, { "id": "qc_telemetry_matrix_19", "category": "Sequencing & Flowcell QC", "title": "Flowcell Telemetry 19: Soft-Clipped Read Clusters", "description": "Detailed sequencing quality metrics, physical telemetry, and compliance benchmarks for Soft-Clipped Read Clusters.", "row_count": 4, "columns_count": 6, "tags": [ "Sequencing QC", "NovaSeq", "Soft-Clipped" ] }, { "id": "qc_telemetry_matrix_20", "category": "Sequencing & Flowcell QC", "title": "Flowcell Telemetry 20: Flowcell Master COA", "description": "Detailed sequencing quality metrics, physical telemetry, and compliance benchmarks for Flowcell Master COA.", "row_count": 4, "columns_count": 6, "tags": [ "Sequencing QC", "NovaSeq", "Flowcell" ] }, { "id": "bio_kinetics_matrix_01", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 01: TRIP13 AAA+ Hexamer Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for TRIP13 AAA+ Hexamer.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "TRIP13" ] }, { "id": "bio_kinetics_matrix_02", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 02: CENPE Kinesin-7 Motor Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for CENPE Kinesin-7 Motor.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "CENPE" ] }, { "id": "bio_kinetics_matrix_03", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 03: MAD1-MAD2 Dimerization Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for MAD1-MAD2 Dimerization.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "MAD1-MAD2" ] }, { "id": "bio_kinetics_matrix_04", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 04: Aurora A - TPX2 Complex Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for Aurora A - TPX2 Complex.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "Aurora" ] }, { "id": "bio_kinetics_matrix_05", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 05: PLK1 Polo-Box Domain Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for PLK1 Polo-Box Domain.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "PLK1" ] }, { "id": "bio_kinetics_matrix_06", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 06: BUBR1-CDC20 Complex Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for BUBR1-CDC20 Complex.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "BUBR1-CDC20" ] }, { "id": "bio_kinetics_matrix_07", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 07: KNL1 Multi-MELT Array Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for KNL1 Multi-MELT Array.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "KNL1" ] }, { "id": "bio_kinetics_matrix_08", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 08: Ndc80 Complex Tail Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for Ndc80 Complex Tail.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "Ndc80" ] }, { "id": "bio_kinetics_matrix_09", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 09: Spindle Microtubules Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for Spindle Microtubules.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "Spindle" ] }, { "id": "bio_kinetics_matrix_10", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 10: Separase Protease Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for Separase Protease.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "Separase" ] }, { "id": "bio_kinetics_matrix_11", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 11: Centrosomal PCM (CEP192) Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for Centrosomal PCM (CEP192).", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "Centrosomal" ] }, { "id": "bio_kinetics_matrix_12", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 12: Chromatin Elastic Fiber Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for Chromatin Elastic Fiber.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "Chromatin" ] }, { "id": "bio_kinetics_matrix_13", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 13: Centriolar Transition Zone Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for Centriolar Transition Zone.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "Centriolar" ] }, { "id": "bio_kinetics_matrix_14", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 14: cGAS Micronuclear Condensation Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for cGAS Micronuclear Condensation.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "cGAS" ] }, { "id": "bio_kinetics_matrix_15", "category": "Biophysical Kinetics", "title": "Biophysical Parameter 15: Cellular ATP Consumption Mechanics", "description": "Nanomechanical measurements, thermodynamic free energies, and cellular kinetics for Cellular ATP Consumption.", "row_count": 4, "columns_count": 6, "tags": [ "Biophysics", "Kinetics", "Cellular" ] }, { "id": "coh_registry_crossmatch_01", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 01: St. Jude Children's Research Hospital", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from St. Jude Children's Research Hospital.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "St." ] }, { "id": "coh_registry_crossmatch_02", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 02: NCI TARGET Pan-Cancer Project", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from NCI TARGET Pan-Cancer Project.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "NCI" ] }, { "id": "coh_registry_crossmatch_03", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 03: International MVA Syndrome Registry", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from International MVA Syndrome Registry.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "International" ] }, { "id": "coh_registry_crossmatch_04", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 04: TCGA Soft Tissue Sarcoma Cohort", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from TCGA Soft Tissue Sarcoma Cohort.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "TCGA" ] }, { "id": "coh_registry_crossmatch_05", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 05: ICGC Pediatric Brain Tumor Consortium", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from ICGC Pediatric Brain Tumor Consortium.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "ICGC" ] }, { "id": "coh_registry_crossmatch_06", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 06: Children's Oncology Group (COG) ARST", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from Children's Oncology Group (COG) ARST.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "Children's" ] }, { "id": "coh_registry_crossmatch_07", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 07: DECIPHER Rare Disease Database", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from DECIPHER Rare Disease Database.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "DECIPHER" ] }, { "id": "coh_registry_crossmatch_08", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 08: Genomics England 100,000 Genomes", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from Genomics England 100,000 Genomes.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "Genomics" ] }, { "id": "coh_registry_crossmatch_09", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 09: DepMap Cancer Dependency Map (PRISM)", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from DepMap Cancer Dependency Map (PRISM).", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "DepMap" ] }, { "id": "coh_registry_crossmatch_10", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 10: DepMap CRISPR Essentiality Screens", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from DepMap CRISPR Essentiality Screens.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "DepMap" ] }, { "id": "coh_registry_crossmatch_11", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 11: COSMIC Cell Lines Project", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from COSMIC Cell Lines Project.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "COSMIC" ] }, { "id": "coh_registry_crossmatch_12", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 12: CIViC Clinical Interpretations", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from CIViC Clinical Interpretations.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "CIViC" ] }, { "id": "coh_registry_crossmatch_13", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 13: OncoKB Precision Oncology", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from OncoKB Precision Oncology.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "OncoKB" ] }, { "id": "coh_registry_crossmatch_14", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 14: RDCA-DAP Rare Disease Cures", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from RDCA-DAP Rare Disease Cures.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "RDCA-DAP" ] }, { "id": "coh_registry_crossmatch_15", "category": "Comparative Oncology Cohorts", "title": "Cohort Cross-Match 15: AACR Project GENIE Registry", "description": "Comparative genomic frequencies, survival statistics, and precision oncology insights from AACR Project GENIE Registry.", "row_count": 4, "columns_count": 6, "tags": [ "Comparative Oncology", "Cohorts", "AACR" ] } ] }