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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書誌詳細
出版年:Genet Med
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 2020
主題:
Article
オンライン･アクセス: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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