Genomic diagnosis for children with intellectual disability and/or developmental delay.

ABSTRACT:

Background

Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios.

Methods

Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected).

Results

Pathogenic or likely pathogenic variants were found in 100 individuals (27%), with variants of uncertain significance in an additional 42 (11.3%). We found that a family history of neurological disease, especially the presence of an affected first-degree relative, reduces the pathogenic/likely pathogenic variant identification rate, reflecting both the disease relev

SUBMITTER: Bowling KM 

PROVIDER: S-EPMC5448144 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature