Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

PURPOSE: The goal of this study was to assess the scale of low-level parental mosaicism in exome sequencing (ES) databases. METHODS: We analyzed approximately 2000 family trio ES datasets from the Baylor-Hopkins Center for Mendelian Genomics (BHCMG) and Baylor Genetics (BG). Among apparent de novo s...

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Publicado en:Genet Med
Main Authors: Gambin, Tomasz, Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Xie, Nina G., Wu, Lucia R., Yan, Yan Helen, Cao, Ye, Akdemir, Zeynep H. Coban, Wilson, Theresa A., Jhangiani, Shalini N., Chen, Ed, Eng, Christine M., Muzny, Donna, Posey, Jennifer E., Yang, Yaping, Zhang, David Y., Shaw, Chad, Liu, Pengfei, Lupski, James R., Stankiewicz, Paweł
Formato: Artigo
Idioma:Inglês
Publicado: 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7606563/
https://ncbi.nlm.nih.gov/pubmed/32655138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0897-z
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