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

PURPOSE: Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability. METHODS: Exome/genome sequencing and analysis of 789 ‘unaffected’ parents was performed. RESULTS: Pathogenic/likely pathogenic variants were identifi...

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Pubblicato in:Genet Med
Autori principali: Thompson, Michelle L., Finnila, Candice R., Bowling, Kevin M., Brothers, Kyle B., Neu, Matthew B., Amaral, Michelle D., Hiatt, Susan M., East, Kelly M., Gray, David E., Lawlor, James M.J., Kelley, Whitley V., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Levy, Shawn E., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6185813/
https://ncbi.nlm.nih.gov/pubmed/29790872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2018.53
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