Steps to ensure accuracy in genotype and SNP calling from Illumina sequencing data
作者： Qi Liu , Yan Guo , Jiang Li , Jirong Long , Bing Zhang
DOI: 10.1186/1471-2164-13-S8-S8
关键词:
摘要: … ability to discover a comprehensive list of human genetic variation and to search for causing variation or mutation underlying diseases depends crucially on the accurate calling of SNPs …
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Bryan N. Howie, Peter Donnelly, Jonathan Marchini, A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLOS Genetics. ,vol. 5, ,(2009) , 10.1371/JOURNAL.PGEN.1000529
Tobias B Haack, Katharina Danhauser, Birgit Haberberger, Jonathan Hoser, Valentina Strecker, Detlef Boehm, Graziella Uziel, Eleonora Lamantea, Federica Invernizzi, Joanna Poulton, Boris Rolinski, Arcangela Iuso, Saskia Biskup, Thorsten Schmidt, Hans-Werner Mewes, Ilka Wittig, Thomas Meitinger, Massimo Zeviani, Holger Prokisch, Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nature Genetics. ,vol. 42, pp. 1131- 1134 ,(2010) , 10.1038/NG.706
Wei Zheng, Jirong Long, Yu-Tang Gao, Chun Li, Ying Zheng, Yong-Bin Xiang, Wanqing Wen, Shawn Levy, Sandra L Deming, Jonathan L Haines, Kai Gu, Alecia Malin Fair, Qiuyin Cai, Wei Lu, Xiao-Ou Shu, Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1 Nature Genetics. ,vol. 41, pp. 324- 328 ,(2009) , 10.1038/NG.318
Yingrui Li, Nicolas Vinckenbosch, Geng Tian, Emilia Huerta-Sanchez, Tao Jiang, Hui Jiang, Anders Albrechtsen, Gitte Andersen, Hongzhi Cao, Thorfinn Korneliussen, Niels Grarup, Yiran Guo, Ines Hellman, Xin Jin, Qibin Li, Jiangtao Liu, Xiao Liu, Thomas Sparsø, Meifang Tang, Honglong Wu, Renhua Wu, Chang Yu, Hancheng Zheng, Arne Astrup, Lars Bolund, Johan Holmkvist, Torben Jørgensen, Karsten Kristiansen, Ole Schmitz, Thue W Schwartz, Xiuqing Zhang, Ruiqiang Li, Huanming Yang, Jian Wang, Torben Hansen, Oluf Pedersen, Rasmus Nielsen, Jun Wang, None, Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants Nature Genetics. ,vol. 42, pp. 969- 972 ,(2010) , 10.1038/NG.680
Si Quang Le, Richard Durbin, SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples Genome Research. ,vol. 21, pp. 952- 960 ,(2011) , 10.1101/GR.113084.110
Sarah B Ng, Kati J Buckingham, Choli Lee, Abigail W Bigham, Holly K Tabor, Karin M Dent, Chad D Huff, Paul T Shannon, Ethylin Wang Jabs, Deborah A Nickerson, Jay Shendure, Michael J Bamshad, Exome sequencing identifies the cause of a Mendelian disorder Nature Genetics. ,vol. 42, pp. 30- 35 ,(2010) , 10.1038/NG.499
Yanliang Jiang, Jianguo Lu, Eric Peatman, Huseyin Kucuktas, Shikai Liu, Shaolin Wang, Fanyue Sun, Zhanjiang Liu, None, A pilot study for channel catfish whole genome sequencing and de novo assembly BMC Genomics. ,vol. 12, pp. 629- 629 ,(2011) , 10.1186/1471-2164-12-629
, A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms Nature. ,vol. 409, pp. 928- 933 ,(2001) , 10.1038/35057149
Zhi Wei, Wei Wang, Pingzhao Hu, Gholson J Lyon, Hakon Hakonarson, None, SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data Nucleic Acids Research. ,vol. 39, ,(2011) , 10.1093/NAR/GKR599
M. Sultan, M. H. Schulz, H. Richard, A. Magen, A. Klingenhoff, M. Scherf, M. Seifert, T. Borodina, A. Soldatov, D. Parkhomchuk, D. Schmidt, S. O'Keeffe, S. Haas, M. Vingron, H. Lehrach, M.-L. Yaspo, A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome Science. ,vol. 321, pp. 956- 960 ,(2008) , 10.1126/SCIENCE.1160342