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Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon
2025-08-12
genetic and genomic medicine
Title + abstract only
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PurposeCopy 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. MethodsDuring a collaborative Hackathon, we developed and applied scalable CNV analysis workflows to srGS data from three unsolved, exome-negative, rare disease cohorts: Primary Immunodeficiency (N = ...
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