An efficient and tunable parameter to improve variant calling for whole genome and exome sequencing data
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://link.springer.com/article/10.1007/s13258-017-0608-6/fulltext.html
Reference23 articles.
1. Abyzov A, Li S, Kim DR, Mohiyuddin M, Stutz AM, Parrish NF, Mu XJ, Clark W, Chen K, Hurles M et al (2015) Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms. Nat Commun 6:7256
2. Boland JF, Chung CC, Roberson D, Mitchell J, Zhang X, Im KM, He J, Chanock SJ, Yeager M, Dean M (2013) The new sequencer on the block: comparison of Life Technology’s Proton sequencer to an Illumina HiSeq for whole-exome sequencing. Hum Genet 132:1153–1163
3. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P et al (2010) Origins and functional impact of copy number variation in the human genome. Nature 464:704–712
4. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491–498
5. Gonzaga-Jauregui C, Lupski JR, Gibbs RA (2012) Human genome sequencing in health and disease. Annu Rev Med 63:35–61
Cited by 4 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. Protocol for the development of joint attention-based subclassification of autism spectrum disorder and validation using multi-modal data;BMC Psychiatry;2023-08-15
2. MPG and NPRL3 Polymorphisms Are Associated with Ischemic Stroke Susceptibility and Post-Stroke Mortality;Diagnostics;2020-11-13
3. A study of associations between CUBN, HNF1A, and LIPC gene polymorphisms and coronary artery disease;Scientific Reports;2020-10-01
4. Association study of the three functional polymorphisms (TAS2R46G>A, OR4C16G>A, and OR4X1A>T) with recurrent pregnancy loss;Genes & Genomics;2018-09-10
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