Article
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.
Genome medicine - 31 Dec 2025
Du Haowei, Lun Ming Yin, Gagarina Lidiia, Bengtsson Jesse D, Grochowski Christopher M, Mehaffey Michele G, Hwang James Paul, Jhangiani Shalini N, Bhamidipati Sravya V, Muzny Donna M, Poli M Cecilia, Ochoa Sebastian, Chinn Ivan K, Lindstrand Anna, Posey Jennifer E, Gibbs Richard A, Liu Pengfei, Lupski James R, Carvalho Claudia M B
Abstract excerpt
BACKGROUND: Copy number variation (CNV) is a class of genomic structural variation (SV) that contributes to genomic disorders and can significantly impact health. Short-read genome sequencing (sr-GS) enables genome-wide SV calling which has been shown to increase diagnosis in unsolved rare disease families. The growing number of large sequencing cohort projects with sr-GS data available requires open free...
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