ArticleGenetics in medicine : official journal of the American College of Medical Genetics2024
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 2 citations in OpenAlex.
- Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort.NPJ genomic medicine · 2025Article
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10 authors at 1 institution in 1 country.
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Abstract
purposeCopy-number variants (CNVs) and other non-single nucleotide variant/indel variant types contribute an important proportion of diagnoses in individuals with suspected genetic disease. This study describes the range of such variants detected by genome sequencing (GS).
methodsFor a pediatric cohort of 1032 participants undergoing clinical GS, we characterize the CNVs and other non-single nucleotide variant/indel variant types that were reported, including aneuploidies, mobile element insertions, and uniparental disomies, and we describe the bioinformatic pipeline used to detect these variants.
resultsTogether, these genetic alterations accounted for 15.8% of reported variants. Notably, 67.9% of these were deletions, 32.9% of which overlapped a single gene, and many deletions were reported together with a second variant in the same gene in cases of recessive disease. A retrospective medical record review in a subset of this cohort revealed that up to 6 additional genetic tests were ordered in 68% (26/38) of cases, some of which failed to report the CNVs/rare variants reported on GS.
conclusionGS detected a broad range of reported variant types, including CNVs ranging in size from 1 Kb to 46 Mb.
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