Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing

Published:2017-11-20 Issue:2 Volume:93 Page:1014-1031
ISSN:1464-7931
Container-title:Biological Reviews
language:en
Short-container-title:Biol Rev

Author:

Jin Zi-Bing¹²,Li Zhongshan³,Liu Zhenwei³,Jiang Yi³,Cai Xue-Bi¹²,Wu Jinyu³^ORCID

Affiliation:

1. Division of Ophthalmic Genetics, The Eye Hospital, School of Ophthalmology & Optometry; Wenzhou Medical University; Wenzhou 325027 China

2. State Key Laboratory of Ophthalmology Optometry and Vision Science; Wenzhou Medical University, Wenzhou 325027 China

3. Institute of Genomic Medicine; Wenzhou Medical University; Wenzhou 325000 China

Funder

National Natural Science Foundation of China

National Key Research and Development Basic Research Program

Publisher

Wiley

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/brv.12383/fullpdf

Reference183 articles.

1. Post-zygotic point mutations are an underrecognized source of de novo genomic variation;Acuna-Hidalgo;American Journal of Human Genetics,2015

2. New insights into the generation and role of de novo mutations in health and disease;Acuna-Hidalgo;Genome Biology,2016

3. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

4. Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation;Afonso;Arquivos Brasileiros de Endocrinologia e Metabologia,2014

5. Utility of whole exome sequencing in evaluation of juvenile motor neuron disease;Agarwal;Muscle & Nerve,2016

Cited by 31 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatment;Brain Research;2024-11

2. Systematic evaluation ofde novomutation calling tools using whole genome sequencing data;2024-08-30

3. Emerging insights into pyrazoline motifs: A comprehensive exploration of biological mechanisms and prospects for future advancements;Journal of Molecular Structure;2024-01

4. Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy;BMC Ophthalmology;2023-11-29

5. Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3;Heliyon;2023-09

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3