De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases

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成果类型：

期刊论文

作者：

Li, Wei*;He, Xiang-Dong;Yang, Zheng-Tao;Han, Dong-Ming;Sun, Yan;...

通讯作者：

Li, W;Li, Wei;Gao, Ya;Li, JK;Wang, Zhuo-Shi;He, W

作者机构：

[Han, Dong-Ming; Li, Wei; Ma, Yu-Ting; Li, W; Yang, Zheng-Tao; Yang, Huan-Ming] Univ Chinese Acad Sci, Coll Life Sci, 15 Datun Rd, Beijing 100049, Peoples R China.

[Gao, Ya; Han, Dong-Ming; Yang, Zheng-Tao; Li, Wei; Jin, Xin; Li, JK; Li, Jian-Kang; Ma, Yu-Ting; Guo, Si-Cheng; Li, W; Yang, Huan-Ming] BGI Shenzhen, Bldg 11, Shenzhen 518083, Peoples R China.

[He, Xiang-Dong; Wang, Zhuo-Shi; Sun, Yan; He, Wei] He Univ, 66 Sishui St, Shenyang 110163, Peoples R China.

[Chen, Yan-Xian] Peking Univ, Shenzhen Hosp, Shenzhen Peking Univ Hong Kong Univ Sci & Technol, Dept Ophthalmol, Shenzhen, Peoples R China.

[Han, Xiao-Tong] Sun Yat Sen Univ, State Key Lab Ophthalmol, Zhongshan Ophthalm Ctr,Guangdong Prov Clin Res Ct, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou, Peoples R China.

通讯机构：

[Gao, Y; Li, W; Li, JK ] B

[Li, W ] U

[Wang, ZS; He, W ] H

Univ Chinese Acad Sci, Coll Life Sci, 15 Datun Rd, Beijing 100049, Peoples R China.

BGI Shenzhen, Bldg 11, Shenzhen 518083, Peoples R China.

语种：

英文

关键词：

inherited eye diseases (IED);targeted exome sequencing;proband-parent trio;de novo mutation (DNM);genetic landscape

期刊：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

ISSN：

0146-0404

年：

2023

卷：

期：

页码：

DOI：

10.1167/iovs.64.2.5

基金类别：

Shenyang Science and technology project [20-301-4-00]

机构署名：

本校为其他机构

院系归属：

植物保护学院

摘要：

PURPOSE: The purpose of this study was to describe genotype-phenotype associations and novel insights into genetic characteristics in a trio-based cohort of inherited eye diseases (IEDs). METHODS: To determine the etiological role of de novo mutations (DNMs) and genetic profile in IEDs, we retrospectively reviewed a large cohort of proband-parent trios of Chinese origin. The patients underwent a detailed examination and was clinically diagnosed by an ophthalmologist. Panel-based targeted exome sequencing was performed on DNA extracted from blood samples, containing coding regions of 792 IED-ca...

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De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases

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