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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Vydáno v:Genet Med
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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Article
On-line přístup: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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