Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

A substantial portion of Mendelian disease patients suffers from genetic variants that are inherited in a recessive manner. A precise understanding of pathogenic recessive variants in a population would assist in pre-screening births of such patients. However, a systematic understanding of the contr...

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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Lee, Youngha, Park, Soojin, Lee, Jin Sook, Kim, Soo Yeon, Cho, Jaeso, Yoo, Yongjin, Lee, Sangmoon, Yoo, Taekyeong, Lee, Moses, Seo, Jieun, Lee, Jeongeun, Kneissl, Jana, Lee, Jean, Jeon, Hyoungseok, Jeon, Eun Young, Hong, Sung Eun, Kim, Eunha, Kim, Hyuna, Kim, Woo Joong, Kim, Jon Soo, Ko, Jung Min, Cho, Anna, Lim, Byung Chan, Kim, Won Seop, Choi, Murim, Chae, Jong-Hee
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6989631/
https://ncbi.nlm.nih.gov/pubmed/31996704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-58101-8
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