Whole-exome sequencing of <i>de novo</i> genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss.

Hu, Sijing; Zhang, Hao; Liu, Yunqiang; Liu, Mohan; Li, Jingjing; Liao, Shunyao

Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss.

Hu, Sijing; Zhang, Hao; Liu, Yunqiang; Liu, Mohan; Li, Jingjing; Liao, Shunyao.

Afiliação

Hu S; Diabetes Center & Institute of Organ Transplantation, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China, 610072, China.
Zhang H; Department of Medical Genetics and Division of Morbid Genomics, State Key Laboratory of Biotherapy, West China Hospital,, West China Medical School, Sichuan University,, Chengdu, China, 610041, China.
Liu Y; Department of Medical Genetics and Division of Morbid Genomics, State Key Laboratory of Biotherapy, West China Hospital,, West China Medical School, Sichuan University,, Chengdu, China, 610041, China.
Liu M; Department of Medical Genetics and Division of Morbid Genomics, State Key Laboratory of Biotherapy, West China Hospital,, West China Medical School, Sichuan University,, Chengdu, China, 610041, China.
Li J; Diabetes Center & Institute of Organ Transplantation, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China, 610072, China.
Liao S; Diabetes Center & Institute of Organ Transplantation, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China, 610072, China.

F1000Res ; 10: 61, 2021.

Article em En | MEDLINE | ID: mdl-34567527

Assuntos

Variações do Número de Cópias de DNA; Perda Auditiva Neurossensorial; China; Surdez; Perda Auditiva Neurossensorial/genética; Humanos; Lactente; Mutação; Linhagem; Sequenciamento do Exoma

Palavras-chave

Whole-exome sequencing; compound heterozygosity; de novo pathogenic variant; genetic and environmental interaction; nonsyndromic hearing loss

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variações do Número de Cópias de DNA / Perda Auditiva Neurossensorial Limite: Humans / Infant País/Região como assunto: Asia Idioma: En Revista: F1000Res Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Reino Unido

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