Article

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders

2026-01-27

Abstract excerpt

Systematic analysis of copy number variants (CNVs) in large datasets is challenging and there are limited studies of homozygous copy number losses in rare disease exome datasets. Here we leveraged the genomic uniqueness and relative under-representation of the Indian population in the current public genomic databases and identified 42,386 possible homozygous losses (median count 20 per individual, range 0 – 55; me...

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Literature Corpus work: 1d49a447-f5d2-586a-92d0-72a90baa8603
DOI: 10.64898/2026.01.27.26344632

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