VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants

被引:213
作者
Obenchain, Valerie [1 ]
Lawrence, Michael [2 ]
Carey, Vincent [3 ]
Gogarten, Stephanie [4 ]
Shannon, Paul [1 ]
Morgan, Martin [1 ]
机构
[1] Fred Hutchinson Canc Res Ctr, Program Computat Biol, Seattle, WA 98109 USA
[2] Genentech Inc, Bioinformat & Computat Biol, San Francisco, CA 94080 USA
[3] Harvard Univ, Brigham & Womens Hosp, Sch Med, Boston, MA 02115 USA
[4] Univ Washington, Dept Biostat, Seattle, WA 98195 USA
基金
美国国家卫生研究院;
关键词
D O I
10.1093/bioinformatics/btu168
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
.Summary: VariantAnnotation is an R / Bioconductor package for the exploration and annotation of genetic variants. Capabilities exist for reading, writing and filtering variant call format (VCF) files. VariantAnnotation allows ready access to additional R / Bioconductor facilities for advanced statistical analysis, data transformation, visualization and integration with diverse genomic resources.
引用
收藏
页码:2076 / 2078
页数:3
相关论文
共 11 条
[1]   An integrated map of genetic variation from 1,092 human genomes [J].
Altshuler, David M. ;
Durbin, Richard M. ;
Abecasis, Goncalo R. ;
Bentley, David R. ;
Chakravarti, Aravinda ;
Clark, Andrew G. ;
Donnelly, Peter ;
Eichler, Evan E. ;
Flicek, Paul ;
Gabriel, Stacey B. ;
Gibbs, Richard A. ;
Green, Eric D. ;
Hurles, Matthew E. ;
Knoppers, Bartha M. ;
Korbel, Jan O. ;
Lander, Eric S. ;
Lee, Charles ;
Lehrach, Hans ;
Mardis, Elaine R. ;
Marth, Gabor T. ;
McVean, Gil A. ;
Nickerson, Deborah A. ;
Schmidt, Jeanette P. ;
Sherry, Stephen T. ;
Wang, Jun ;
Wilson, Richard K. ;
Gibbs, Richard A. ;
Dinh, Huyen ;
Kovar, Christie ;
Lee, Sandra ;
Lewis, Lora ;
Muzny, Donna ;
Reid, Jeff ;
Wang, Min ;
Wang, Jun ;
Fang, Xiaodong ;
Guo, Xiaosen ;
Jian, Min ;
Jiang, Hui ;
Jin, Xin ;
Li, Guoqing ;
Li, Jingxiang ;
Li, Yingrui ;
Li, Zhuo ;
Liu, Xiao ;
Lu, Yao ;
Ma, Xuedi ;
Su, Zhe ;
Tai, Shuaishuai ;
Tang, Meifang .
NATURE, 2012, 491 (7422) :56-65
[2]   The variant call format and VCFtools [J].
Danecek, Petr ;
Auton, Adam ;
Abecasis, Goncalo ;
Albers, Cornelis A. ;
Banks, Eric ;
DePristo, Mark A. ;
Handsaker, Robert E. ;
Lunter, Gerton ;
Marth, Gabor T. ;
Sherry, Stephen T. ;
McVean, Gilean ;
Durbin, Richard .
BIOINFORMATICS, 2011, 27 (15) :2156-2158
[3]   Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays [J].
Drmanac, Radoje ;
Sparks, Andrew B. ;
Callow, Matthew J. ;
Halpern, Aaron L. ;
Burns, Norman L. ;
Kermani, Bahram G. ;
Carnevali, Paolo ;
Nazarenko, Igor ;
Nilsen, Geoffrey B. ;
Yeung, George ;
Dahl, Fredrik ;
Fernandez, Andres ;
Staker, Bryan ;
Pant, Krishna P. ;
Baccash, Jonathan ;
Borcherding, Adam P. ;
Brownley, Anushka ;
Cedeno, Ryan ;
Chen, Linsu ;
Chernikoff, Dan ;
Cheung, Alex ;
Chirita, Razvan ;
Curson, Benjamin ;
Ebert, Jessica C. ;
Hacker, Coleen R. ;
Hartlage, Robert ;
Hauser, Brian ;
Huang, Steve ;
Jiang, Yuan ;
Karpinchyk, Vitali ;
Koenig, Mark ;
Kong, Calvin ;
Landers, Tom ;
Le, Catherine ;
Liu, Jia ;
McBride, Celeste E. ;
Morenzoni, Matt ;
Morey, Robert E. ;
Mutch, Karl ;
Perazich, Helena ;
Perry, Kimberly ;
Peters, Brock A. ;
Peterson, Joe ;
Pethiyagoda, Charit L. ;
Pothuraju, Kaliprasad ;
Richter, Claudia ;
Rosenbaum, Abraham M. ;
Roy, Shaunak ;
Shafto, Jay ;
Sharanhovich, Uladzislau .
SCIENCE, 2010, 327 (5961) :78-81
[4]   Bioconductor: open software development for computational biology and bioinformatics [J].
Gentleman, RC ;
Carey, VJ ;
Bates, DM ;
Bolstad, B ;
Dettling, M ;
Dudoit, S ;
Ellis, B ;
Gautier, L ;
Ge, YC ;
Gentry, J ;
Hornik, K ;
Hothorn, T ;
Huber, W ;
Iacus, S ;
Irizarry, R ;
Leisch, F ;
Li, C ;
Maechler, M ;
Rossini, AJ ;
Sawitzki, G ;
Smith, C ;
Smyth, G ;
Tierney, L ;
Yang, JYH ;
Zhang, JH .
GENOME BIOLOGY, 2004, 5 (10)
[5]   VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing [J].
Koboldt, Daniel C. ;
Zhang, Qunyuan ;
Larson, David E. ;
Shen, Dong ;
McLellan, Michael D. ;
Lin, Ling ;
Miller, Christopher A. ;
Mardis, Elaine R. ;
Ding, Li ;
Wilson, Richard K. .
GENOME RESEARCH, 2012, 22 (03) :568-576
[6]   Software for Computing and Annotating Genomic Ranges [J].
Lawrence, Michael ;
Huber, Wolfgang ;
Pages, Herve ;
Aboyoun, Patrick ;
Carlson, Marc ;
Gentleman, Robert ;
Morgan, Martin T. ;
Carey, Vincent J. .
PLOS COMPUTATIONAL BIOLOGY, 2013, 9 (08)
[7]   Tabix: fast retrieval of sequence features from generic TAB-delimited files [J].
Li, Heng .
BIOINFORMATICS, 2011, 27 (05) :718-719
[8]   The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data [J].
McKenna, Aaron ;
Hanna, Matthew ;
Banks, Eric ;
Sivachenko, Andrey ;
Cibulskis, Kristian ;
Kernytsky, Andrew ;
Garimella, Kiran ;
Altshuler, David ;
Gabriel, Stacey ;
Daly, Mark ;
DePristo, Mark A. .
GENOME RESEARCH, 2010, 20 (09) :1297-1303
[9]   Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor [J].
McLaren, William ;
Pritchard, Bethan ;
Rios, Daniel ;
Chen, Yuan ;
Flicek, Paul ;
Cunningham, Fiona .
BIOINFORMATICS, 2010, 26 (16) :2069-2070
[10]   ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data [J].
Wang, Kai ;
Li, Mingyao ;
Hakonarson, Hakon .
NUCLEIC ACIDS RESEARCH, 2010, 38 (16) :e164