---
title: "MVA Syndrome Multi-Dimensional Studio"
emoji: 🧬
colorFrom: blue
colorTo: indigo
sdk: static
pinned: false
---

# 🧬 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
1. **🏥 Clinical Phenotype & HPO Profile**: Proband clinical history, congenital nephrocalcinosis, rhabdomyosarcoma, severe IUGR, and parental recurrent pregnancy loss.
2. **🧬 Chromosome & Variant Navigator (5.01M WGS)**: Complete catalog of 5,012,204 whole-genome variant calls across 24 human chromosomes with reactive filters.
3. **📋 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*).
4. **🩺 Phenotype Constellation & Differential Matrix**: Cross-referencing observed clinical HPO findings against competing pediatric cancer and primordial growth syndromes.
5. **⚡ Mosaic Allelic Stratification Table**: Stratification of variants by Variant Allele Frequency (VAF), developmental timing, and inferred tissue lineage penetrance.
6. **🔬 Mitotic Machinery & Interactome Functional Table**: Biochemical, structural, and macromolecular properties of key mitotic checkpoint and centrosomal proteins.
7. **🌐 24-Chromosome Karyotype & Instability Matrix**: Genome-wide breakdown of chromosomal physical lengths, variant densities, SNV/Indel ratios, and literature-reported MVA aneuploidy vulnerability rates.
8. **🔬 Mosaicism & VAF Spectrum**: VAF distribution modeling and somatic mosaicism candidate isolation ($VAF \in [0.05, 0.38]$).
9. **📊 WGS Sequencing & Flowcell Profiler**: 4-lane Illumina NovaSeq sequencing statistics across 805M reads and 36.2× mean coverage.
10. **⚙️ Mitotic Checkpoint Pathway Network**: Molecular complex architecture for MCC, Centrosome, Kinetochore, and SAC silencing.