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
  • [21] Population genomics of human gene expression
    Barbara E Stranger
    Alexandra C Nica
    Matthew S Forrest
    Antigone Dimas
    Christine P Bird
    Claude Beazley
    Catherine E Ingle
    Mark Dunning
    Paul Flicek
    Daphne Koller
    Stephen Montgomery
    Simon Tavaré
    Panos Deloukas
    Emmanouil T Dermitzakis
    Nature Genetics, 2007, 39 : 1217 - 1224
  • [22] Population genomics of human gene expression
    Stranger, Barbara E.
    Nica, Alexandra C.
    Forrest, Matthew S.
    Dimas, Antigone
    Bird, Christine P.
    Beazley, Claude
    Ingle, Catherine E.
    Dunning, Mark
    Flicek, Paul
    Koller, Daphne
    Montgomery, Stephen
    Tavare, Simon
    Deloukas, Panos
    Dermitzakis, Emmanouil T.
    NATURE GENETICS, 2007, 39 (10) : 1217 - 1224
  • [23] The UCSC Cancer Genomics Browser: update 2015
    Goldman, Mary
    Craft, Brian
    Swatloski, Teresa
    Cline, Melissa
    Morozova, Olena
    Diekhans, Mark
    Haussler, David
    Zhu, Jingchun
    NUCLEIC ACIDS RESEARCH, 2015, 43 (D1) : D812 - D817
  • [24] The UCSC Cancer Genomics Browser: update 2013
    Goldman, Mary
    Craft, Brian
    Swatloski, Teresa
    Ellrott, Kyle
    Cline, Melissa
    Diekhans, Mark
    Ma, Singer
    Wilks, Chris
    Stuart, Josh
    Haussler, David
    Zhu, Jingchun
    NUCLEIC ACIDS RESEARCH, 2013, 41 (D1) : D949 - D954
  • [25] The UCSC cancer genomics browser: update 2011
    Sanborn, J. Zachary
    Benz, Stephen C.
    Craft, Brian
    Szeto, Christopher
    Kober, Kord M.
    Meyer, Laurence
    Vaske, Charles J.
    Goldman, Mary
    Smith, Kayla E.
    Kuhn, Robert M.
    Karolchik, Donna
    Kent, W. James
    Stuart, Joshua M.
    Haussler, David
    Zhu, Jingchun
    NUCLEIC ACIDS RESEARCH, 2011, 39 : D951 - D959
  • [26] HUMAN GENOMICS The end of the start for population sequencing
    Birney, Ewan
    Soranzo, Nicole
    NATURE, 2015, 526 (7571) : 52 - 53
  • [27] Personal and population genomics of human regulatory variation
    Vernot, Benjamin
    Stergachis, Andrew B.
    Maurano, Matthew T.
    Vierstra, Jeff
    Neph, Shane
    Thurman, Robert E.
    Stamatoyannopoulos, John A.
    Akey, Joshua M.
    GENOME RESEARCH, 2012, 22 (09) : 1689 - 1697
  • [28] Human Disease Variation in the Light of Population Genomics
    Prohaska, Ana
    Racimo, Fernando
    Schork, Andrew J.
    Sikora, Martin
    Stern, Aaron J.
    Ilardo, Melissa
    Allentoft, Morten Erik
    Folkersen, Lasse
    Buil, Alfonso
    Moreno-Mayar, J. Victor
    Korneliussen, Thorfinn
    Geschwind, Daniel
    Ingason, Andres
    Werge, Thomas
    Nielsen, Rasmus
    Willerslev, Eske
    CELL, 2019, 177 (01) : 115 - 131
  • [29] Integrated genome browser: visual analytics platform for genomics
    Freese, Nowlan H.
    Norris, David C.
    Loraine, Ann E.
    BIOINFORMATICS, 2016, 32 (14) : 2089 - 2095
  • [30] PopDrowser: the Population Drosophila Browser
    Ramia, Miquel
    Librado, Pablo
    Casillas, Sonia
    Rozas, Julio
    Barbadilla, Antonio
    BIOINFORMATICS, 2012, 28 (04) : 595 - 596