PopHuman: the human population genomics browser

被引:25
|
作者
Casillas, Sonia [1 ,2 ]
Mulet, Roger [1 ,2 ]
Villegas-Miron, Pablo [3 ]
Hervas, Sergi [1 ,2 ]
Sanz, Esteve [4 ]
Velasco, Daniel [1 ,2 ]
Bertranpetit, Jaume [3 ]
Laayouni, Hafid [3 ,5 ]
Barbadilla, Antonio [1 ,2 ,4 ]
机构
[1] Univ Autonoma Barcelona, Inst Biotecnol & Biomed, E-08193 Barcelona, Spain
[2] Univ Autonoma Barcelona, Dept Genet & Microbiol, E-08193 Barcelona, Spain
[3] Univ Pompeu Fabra, Inst Evolutionary Biol UPF CSIC, Doctor Aiguader 88 PRBB, Barcelona 08003, Catalonia, Spain
[4] Univ Autonoma Barcelona, Serv Genom & Bioinformat, E-08193 Barcelona, Spain
[5] ESCI UPF, Bioinformat Studies, Pg Pujades 1, Barcelona 08003, Spain
关键词
ADAPTIVE PROTEIN EVOLUTION; RECENT POSITIVE SELECTION; NATURAL-SELECTION; STATISTICAL TESTS; GENETIC-VARIATION; RAPID EVOLUTION; HAPLOTYPE MAP; DNA; SEQUENCE; RECOMBINATION;
D O I
10.1093/nar/gkx943
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The 1000 Genomes Project (1000GP) represents the most comprehensiveworld-wide nucleotide variation data set so far in humans, providing the sequencing and analysis of 2504 genomes from 26 populations and reporting >84 million variants. The availability of this sequence data provides the human lineage with an invaluable resource for population genomics studies, allowing the testing of molecular population genetics hypotheses and eventually the understanding of the evolutionary dynamics of genetic variation in human populations. Here we present PopHuman, a new population genomics-oriented genome browser based on JBrowse that allows the interactive visualization and retrieval of an extensive inventory of population genetics metrics. Efficient and reliable parameter estimates have been computed using a novel pipeline that faces the unique features and limitations of the 1000GP data, and include a battery of nucleotide variation measures, divergence and linkage disequilibrium parameters, as well as different tests of neutrality, estimated in non-overlapping windows along the chromosomes and in annotated genes for all 26 populations of the 1000GP. PopHuman is open and freely available at http://pophuman.uab.cat.
引用
收藏
页码:D1003 / D1010
页数:8
相关论文
共 50 条
  • [1] PopFly: the Drosophila population genomics browser
    Hervas, Sergi
    Sanz, Esteve
    Casillas, Sonia
    Pool, John E.
    Barbadilla, Antonio
    BIOINFORMATICS, 2017, 33 (17) : 2779 - 2780
  • [2] The HuRef Browser: a web resource for individual human genomics
    Axelrod, Nelson
    Lin, Yuan
    Ng, Pauline C.
    Stockwell, Timothy B.
    Crabtree, Jonathan
    Huang, Jiaqi
    Kirkness, Ewen
    Strausberg, Robert L.
    Frazier, Marvin E.
    Venter, J. Craig
    Kravitz, Saul
    Levy, Samuel
    NUCLEIC ACIDS RESEARCH, 2009, 37 : D1018 - D1024
  • [3] MtBrowse: An integrative genomics browser for human mitochondrial DNA
    Singh, Vipin
    Jolly, Bani
    Rajput, Neeraj K.
    Pramanik, Sayan
    Bhardwaj, Anshu
    MITOCHONDRION, 2019, 48 : 31 - 36
  • [4] The JAX Synteny Browser for mouse-human comparative genomics
    Georgi Kolishovski
    Anna Lamoureux
    Paul Hale
    Joel E. Richardson
    Jill M. Recla
    Omoluyi Adesanya
    Al Simons
    Govindarajan Kunde-Ramamoorthy
    Carol J. Bult
    Mammalian Genome, 2019, 30 : 353 - 361
  • [5] The JAX Synteny Browser for mouse-human comparative genomics
    Kolishovski, Georgi
    Lamoureux, Anna
    Hale, Paul
    Richardson, Joel E.
    Recla, Jill M.
    Adesanya, Omoluyi
    Simons, Al
    Kunde-Ramamoorthy, Govindarajan
    Bult, Carol J.
    MAMMALIAN GENOME, 2019, 30 (11-12) : 353 - 361
  • [6] UCSC cancer genomics browser
    Zhu, Jingchun
    Sanborn, J.
    Benz, Stephen
    Hsu, Fan
    Szeto, Christopher
    Kuhn, Robert
    Karolchik, Donna
    Archie, John
    Lenburg, Marc
    Esserman, Laura
    Kent, W.
    Haussler, David
    Wang, Ting
    CANCER RESEARCH, 2009, 69
  • [7] The UCSC Cancer Genomics Browser
    Zhu, Jingchun
    Sanborn, J. Zachary
    Benz, Stephen
    Szeto, Christopher
    Hsu, Fan
    Kuhn, Robert M.
    Karolchik, Donna
    Archie, John
    Lenburg, Marc E.
    Esserman, Laura J.
    Kent, W. James
    Haussler, David
    Wang, Ting
    NATURE METHODS, 2009, 6 (04) : 239 - 240
  • [8] The UCSC Cancer Genomics Browser
    Zhu, Jingchun
    Sanborn, J. Zachary
    Benz, Stephen C.
    Craft, Brian
    Szeto, Christopher
    Kober, Kord M.
    Goldman, Mary
    Meyer, Laurence
    Vaske, Charles
    Collisson, Eric
    Stuart, Joshua
    Haussler, David
    CANCER RESEARCH, 2011, 71
  • [9] The Microbe browser for comparative genomics
    Gattiker, Alexandre
    Dessimoz, Christophe
    Schneider, Adrian
    Xenarios, Ioannis
    Pagni, Marco
    Rougemont, Jacques
    NUCLEIC ACIDS RESEARCH, 2009, 37 : W296 - W299
  • [10] The UCSC Cancer Genomics Browser
    Craft, Brian
    Elliott, Kyle
    Goldman, Mary
    Wilks, Christopher
    Szeto, Christopher
    Ma, Singer
    Stuart, Josh
    Zhu, Jingchun
    Haussler, David
    CANCER RESEARCH, 2011, 71