Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Grozeva, Detelina; Carss, Keren; Spasić-Bošković, Olivera; Tejada, María‐Isabel; Gécz, Jozef; Shaw, Marie; Corbett, Mark; Haan, Eric; Thompson, Elizabeth; Friend, Kathryn; B. Hussain, Zaamin; Hackett, Anna; Field, Michael; Renieri, Alessandra; E. Stevenson, Roger; E. Schwartz, Charles; Floyd, James; Bentham, Jamie; Cosgrove, Catherine; Keavney, Bernard; Bhattacharya, Shoumo; X‐linked Mental Retardation Project, Italian; E. Hurles, Matthew; Lucy Raymond, F.

doi:10.1002/humu.22901

Public

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Published in Human Mutation • Sep 9, 2015

Authors:

Detelina Grozeva

Keren Carss

Olivera Spasić-Bošković

Abstract

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 va...

Subject

Biology

Intellectual disability

DNA sequencing

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