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Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon

2025-08-12

Abstract excerpt

<h4>Purpose: </h4> Copy number variants (CNVs) are a major contributor to rare genetic diseases, but their detection and interpretation from short read genome sequencing (srGS) data remain challenging, especially at scale. Large amounts of existing srGS data remain under analyzed for clinically relevant CNVs. <h4>Methods:</h4> During a collaborative Hackathon, we developed and applied scalable CNV analysis workflo...

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Literature Corpus work: 918314f5-6f64-5d34-afdf-4b9e85117425
DOI: 10.1101/2025.08.08.25333317

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