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Article

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

2016-10-28

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> 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. <h4>Methods</h4> Whole exome sequences (WES) were generated for 365 individuals (127 affected) and whole genome sequences (WGS) were generated for 612 indi...

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Literature Corpus work
5f4be64d-1235-581c-af10-ed7cbbcd1e3f
DOI
10.1101/084251
Open publication

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Genomic diagnosis for children with intellectual disability and/or developmental delayDOI 10.1101/084251
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