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Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Mosaic genetic variants can have major clinical impact. We systematically analyse trio exome sequence data from 4,293 probands from the DDD Study with severe developmental disorders for pathogenic postzygotic mosaicism (PZM) in the child or a clinically-unaffected parent, and use ultrahigh-depth seq...

詳細記述

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書誌詳細
出版年:Nat Commun
主要な著者: Wright, C. F., Prigmore, E., Rajan, D., Handsaker, J., McRae, J., Kaplanis, J., Fitzgerald, T. W., FitzPatrick, D. R., Firth, H. V., Hurles, M. E.
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6611863/
https://ncbi.nlm.nih.gov/pubmed/31278258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-11059-2
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