Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

BACKGROUND: Exome sequencing has recently become more readily available, and more information about incidental findings has been disclosed. However, data from East Asia are scarce. We studied the application of exome sequencing to the identification of pathogenic/likely pathogenic variants in the AC...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Kuo, Chieh‐Wen, Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Hsu, Ching, Hung, Miao‐Zi, Lin, I‐Lin, Lai, Feipei, Lee, Ni‐Chung
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549563/
https://ncbi.nlm.nih.gov/pubmed/32794656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1455
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