Disease gene identification strategies for exome sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2011258.pdf
Reference85 articles.
1. McKusick VA Online Mendelian Inheritance in Man, OMIM http://www.ncbi.nlm.nih.gov/omim , http://www.ncbi.nlm.nih.gov/omim , 2011.
2. McClellan J, King MC : Genetic heterogeneity in human disease. Cell 2010; 141: 210–217.
3. Mitchell KJ, Porteous DJ : Rethinking the genetic architecture of schizophrenia. Psychol Med 2011; 41: 19–32.
4. Vissers LE, de Ligt J, Gilissen C et al: A de novo paradigm for mental retardation. Nat Genet 2010; 42: 1109–1112.
5. Xu B, Roos JL, Dexheimer P et al: Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet 2011; 43: 864–868.
Cited by 389 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. Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews;2024-09-04
2. Variant ranking pipeline for complex familial disorders;Scientific Reports;2024-06-13
3. Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing;Frontiers in Genetics;2024-05-16
4. Genetic Screening—Emerging Issues;Genes;2024-05-03
5. Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct;European Journal of Human Genetics;2024-02-13
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