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Article

Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2024

James Kiely N, Chowdhury Shimul, Ding Yan, Batalov Sergey, Watkins Kelly, Kwon Yong Hyun, Van Der Kraan Lucitia, Ellsworth Katarzyna, Kingsmore Stephen F, Guidugli Lucia

Abstract excerpt

PURPOSE: Copy-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). METHODS: For a pediatric cohort of 1032 participants undergoing clinical GS, we characterize the CNVs and other non-single nucleotide...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37869996
DOI: 10.1016/j.gim.2023.101006
PMCID: PMC11542619

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