Article
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Cold Spring Harbor molecular case studies - 1 Dec 2021
Cook Courtney B, Armstrong Linlea, Boerkoel Cornelius F, Clarke Lorne A, du Souich Christèle, Demos Michelle K, Gibson William T, Gill Harinder, Lopez Elena, Patel Millan S, Selby Kathryn, Abu-Sharar Ziad, Elliott Alison M, Friedman Jan M
Abstract excerpt
Identifying genetic mosaicism is important in establishing a diagnosis, assessing recurrence risk, and providing accurate genetic counseling. Next-generation sequencing has allowed for the identification of mosaicism at levels below those detectable by conventional Sanger sequencing or chromosomal microarray analysis. The CAUSES Clinic was a pediatric translational trio-based genome-wide (exome or genome)...
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