Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

We performed short-read whole-genome sequencing (WGS) on 692 individuals from 465 families affected by neurodevelopment disorders and identified causal variants, including structural variants, non-coding variants, and mitochondrial variants, in 36% of affected participants. We also used long-read WGS to resolve intractable variants in five cases.

Source: The American Journal of Human Genetics - August 3, 2023 Category: Genetics & Stem Cells Authors: Alba Sanchis-Juan, Karyn Megy, Jonathan Stephens, Camila Armirola Ricaurte, Eleanor Dewhurst, Kayyi Low, Courtney E. French, Detelina Grozeva, Kathleen Stirrups, Marie Erwood, Amy McTague, Christopher J. Penkett, Olga Shamardina, Salih Tuna, Louise C. Dau Tags: Article Source Type: research