메뉴 건너뛰기




Volumn 3, Issue , 2016, Pages

Reference genotype and exome data from an Australian Aboriginal population for health-based research

Author keywords

[No Author keywords available]

Indexed keywords

AUSTRALIA; EXOME; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HUMAN; HUMAN GENOME; INDEL MUTATION; NUCLEOTIDE SEQUENCE; OCEANIC ANCESTRY GROUP; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84963964071     PISSN: None     EISSN: 20524463     Source Type: Journal    
DOI: 10.1038/sdata.2016.23     Document Type: Article
Times cited : (18)

References (27)
  • 1
    • 80054746492 scopus 로고    scopus 로고
    • Exome sequencing as a tool for Mendelian disease gene discovery
    • Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745-755 (2011).
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 745-755
    • Bamshad, M.J.1
  • 2
    • 77956642100 scopus 로고    scopus 로고
    • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    • Ng, S. B. et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42, 790-793 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 790-793
    • Ng, S.B.1
  • 3
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a mendelian disorder
    • Ng, S. B. et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet. 42, 30-35 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 30-35
    • Ng, S.B.1
  • 4
    • 84924365865 scopus 로고    scopus 로고
    • First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes
    • Anderson, D. et al. First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. PLoS ONE 10, e0119333 (2015).
    • (2015) PLoS ONE , vol.10 , pp. e0119333
    • Anderson, D.1
  • 5
    • 79959503826 scopus 로고    scopus 로고
    • The international HapMap project
    • International HapMap C
    • International HapMap, C. The International HapMap Project. Nature 426, 789-796 (2003).
    • (2003) Nature , vol.426 , pp. 789-796
  • 6
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • Genomes Project, C. et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56-65 (2012).
    • (2012) Nature , vol.491 , pp. 56-65
    • Genomes Project, C.1
  • 7
    • 84963933559 scopus 로고    scopus 로고
    • Exome Variant Server.
    • Exome Variant Server. http://evs.gs.washington.edu/EVS/(2011).
    • (2011)
  • 8
    • 84963981299 scopus 로고    scopus 로고
    • Exome Aggregation Consortium.
    • Exome Aggregation Consortium. http://exac.broadinstitute.org (2014).
    • (2014)
  • 9
    • 0035173378 scopus 로고    scopus 로고
    • DbSNP: The NCBI database of genetic variation
    • Sherry, S. T. et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 29, 308-311 (2001).
    • (2001) Nucleic Acids Res. , vol.29 , pp. 308-311
    • Sherry, S.T.1
  • 10
    • 84943171338 scopus 로고    scopus 로고
    • A global reference for human genetic variation
    • Genomes Project, C. et al. A global reference for human genetic variation. Nature 526, 68-74 (2015).
    • (2015) Nature , vol.526 , pp. 68-74
    • Genomes Project, C.1
  • 11
    • 84943182742 scopus 로고    scopus 로고
    • The UK10K project identifies rare variants in health and disease
    • Consortium, U. K. et al. The UK10K project identifies rare variants in health and disease. Nature 526, 82-90 (2015).
    • (2015) Nature , vol.526 , pp. 82-90
    • Consortium, U.K.1
  • 12
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
    • Wang, K., Li, M. & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010).
    • (2010) Nucleic Acids Res. , vol.38 , pp. e164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 15
    • 84930213392 scopus 로고    scopus 로고
    • Second-generation PLINK: Rising to the challenge of larger and richer datasets
    • Chang, C. C. et al. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience 4, 7 (2015).
    • (2015) Gigascience , vol.4 , pp. 7
    • Chang, C.C.1
  • 16
    • 33644874573 scopus 로고    scopus 로고
    • The UCSC genome browser database: Update 2006
    • Hinrichs, A. S. et al. The UCSC Genome Browser Database: update 2006. Nucleic Acids Res. 34, D590-D598 (2006).
    • (2006) Nucleic Acids Res. , vol.34 , pp. D590-D598
    • Hinrichs, A.S.1
  • 17
    • 84963981836 scopus 로고    scopus 로고
    • Genotyping chips strand and build files.
    • Genotyping chips strand and build files. http://www.well.ox.ac.uk/~wrayner/strand/(2014).
    • (2014)
  • 18
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
    • (2010) Genome Res. , vol.20 , pp. 1297-1303
    • McKenna, A.1
  • 19
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo, M. A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491-498 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 491-498
    • DePristo, M.A.1
  • 20
    • 84896009017 scopus 로고    scopus 로고
    • From FastQ data to high confidence variant calls: The Genome Analysis Toolkit best practices pipeline
    • 10.1-33
    • Van der Auwera, G. A. et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics 11, 11.10.1-33 (2013).
    • (2013) Curr Protoc Bioinformatics , vol.11 , pp. 11
    • Van Der Auwera, G.A.1
  • 21
    • 84963947038 scopus 로고    scopus 로고
    • GATK data bundle 2.8
    • GATK data bundle 2.8. ftp://ftp.broadinstitute.org (2014).
    • (2014)
  • 22
    • 84861746974 scopus 로고    scopus 로고
    • Bpipe: A tool for running and managing bioinformatics pipelines
    • Sadedin, S. P., Pope, B. & Oshlack, A. Bpipe: a tool for running and managing bioinformatics pipelines. Bioinformatics 28, 1525-1526 (2012).
    • (2012) Bioinformatics , vol.28 , pp. 1525-1526
    • Sadedin, S.P.1    Pope, B.2    Oshlack, A.3
  • 24
    • 77951770756 scopus 로고    scopus 로고
    • BEDTools: A flexible suite of utilities for comparing genomic features
    • Quinlan, A. R. & Hall, I. M. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26, 841-842 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 841-842
    • Quinlan, A.R.1    Hall, I.M.2
  • 25
    • 84885406698 scopus 로고    scopus 로고
    • Gnu parallel - The command-line power tool
    • Tange, O. Gnu parallel - the command-line power tool. login: The USENIX Magazine 36, 42-47 (2011).
    • (2011) Login: The USENIX Magazine , vol.36 , pp. 42-47
    • Tange, O.1
  • 26
    • 84876030710 scopus 로고    scopus 로고
    • Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program SnpSift
    • Cingolani, P. et al. Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift. Front Genet. 3, 35 (2012).
    • (2012) Front Genet. , vol.3 , pp. 35
    • Cingolani, P.1
  • 27
    • 84927151856 scopus 로고    scopus 로고
    • Bam.iobio: A web-based, real-time, sequence alignment file inspector
    • Miller, A. M. et al. bam.iobio: a web-based, real-time, sequence alignment file inspector. Nat Methods 11, 1189 (2014).
    • (2014) Nat Methods , vol.11 , pp. 1189
    • Miller, A.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.