Article
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Human mutation - 1 Dec 2015
Grozeva Detelina, Carss Keren, Spasic-Boskovic Olivera, Tejada Maria-Isabel, Gecz Jozef, Shaw Marie, Corbett Mark, Haan Eric, Thompson Elizabeth, Friend Kathryn, Hussain Zaamin, Hackett Anna, Field Michael, Renieri Alessandra, Stevenson Roger, Schwartz Charles, Floyd James A B, Bentham Jamie, Cosgrove Catherine, Keavney Bernard, Bhattacharya Shoumo, Hurles Matthew, Raymond F Lucy
Abstract excerpt
To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565 known or candidate ID-associated genes using targeted next-generation sequencing. Likely pathogenic rare variants were found in ∼11% of the cases (113 variants in 107/986 individuals: ∼8% of the individuals had a likely pathogenic loss-of-function [LoF] variant,...
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