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title: MVA Syndrome Multi-Dimensional Studio
emoji: 🧬
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colorTo: indigo
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🧬 MVA Syndrome Multi-Dimensional Genomic Studio
A high-performance interactive research studio for exploring the Rare Disease, Real Kid: MVA Hackathon 2026 dataset across 10 analytical dimensions.
📊 Analytical Dimensions & Deep Infotables
- 🏥 Clinical Phenotype & HPO Profile: Proband clinical history, congenital nephrocalcinosis, rhabdomyosarcoma, severe IUGR, and parental recurrent pregnancy loss.
- 🧬 Chromosome & Variant Navigator (5.01M WGS): Complete catalog of 5,012,204 whole-genome variant calls across 24 human chromosomes with reactive filters.
- 📋 Candidate Gene Burden & ACMG Matrix: 16-gene matrix analyzing OMIM phenotypes, variant burdens, inheritance models, and diagnostic tiers (BUB1B, CEP57, TRIP13, CEP192, MAD1L1, MAD2L1, BUB1, BUB3, SMC5, CENPE, CENPF, PLK1, AURKA, TP53, WT1, DICER1).
- 🩺 Phenotype Constellation & Differential Matrix: Cross-referencing observed clinical HPO findings against competing pediatric cancer and primordial growth syndromes.
- ⚡ Mosaic Allelic Stratification Table: Stratification of variants by Variant Allele Frequency (VAF), developmental timing, and inferred tissue lineage penetrance.
- 🔬 Mitotic Machinery & Interactome Functional Table: Biochemical, structural, and macromolecular properties of key mitotic checkpoint and centrosomal proteins.
- 🌐 24-Chromosome Karyotype & Instability Matrix: Genome-wide breakdown of chromosomal physical lengths, variant densities, SNV/Indel ratios, and literature-reported MVA aneuploidy vulnerability rates.
- 🔬 Mosaicism & VAF Spectrum: VAF distribution modeling and somatic mosaicism candidate isolation ($VAF \in [0.05, 0.38]$).
- 📊 WGS Sequencing & Flowcell Profiler: 4-lane Illumina NovaSeq sequencing statistics across 805M reads and 36.2× mean coverage.
- ⚙️ Mitotic Checkpoint Pathway Network: Molecular complex architecture for MCC, Centrosome, Kinetochore, and SAC silencing.