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

ABSTRACT: Despite significant progress in unraveling the genetic causes of neurodevelopmental disorders (NDDs), a substantial proportion of individuals with NDDs remain without a genetic diagnosis after microarray and/or exome sequencing. Here, we aimed to assess the power of short-read genome sequencing (GS), complemented with long-read GS, to identify causal variants in participants with NDD from the National Institute for Health and Care Research (NIHR) BioResource project. Short-read GS was conducted on 692 individuals (489 affected and 203 unaffected relatives) from 465 families. Additionally, long-read GS was performed on five affected individuals who had structural variants (SVs) in technically challenging regions, had complex SVs, or required distal variant phasing. Causal variants were iden

SUBMITTER: Sanchis-Juan A 

PROVIDER: S-EPMC10432178 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature