Article

Genomic sequencing identifies secondary findings in a cohort of parent study participants

2017-09-01

Abstract excerpt

<h4>ABSTRACT</h4> <h4>PURPOSE</h4> Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability. <h4>METHODS</h4> Exome/genome sequencing and analysis of 789 ‘unaffected’ parents was performed. <h4>RESULTS</h4> Pathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participant...

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Literature Corpus work: 9d09ffba-0f04-5512-a48b-8b5bd315562e
DOI: 10.1101/183186

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