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dc.contributor.author Pelak, K
dc.contributor.author Shianna, KV
dc.contributor.author Ge, D
dc.contributor.author Maia, JM
dc.contributor.author Zhu, M
dc.contributor.author Smith, JP
dc.contributor.author Cirulli, ET
dc.contributor.author Fellay, J
dc.contributor.author Dickson, SP
dc.contributor.author Gumbs, CE
dc.contributor.author Heinzen, EL
dc.contributor.author Need, AC
dc.contributor.author Ruzzo, EK
dc.contributor.author Singh, A
dc.contributor.author Campbell, CR
dc.contributor.author Hong, LK
dc.contributor.author Lornsen, KA
dc.contributor.author McKenzie, AM
dc.contributor.author Sobreira, NL
dc.contributor.author Hoover-Fong, JE
dc.contributor.author Milner, JD
dc.contributor.author Ottman, R
dc.contributor.author Haynes, BF
dc.contributor.author Goedert, JJ
dc.contributor.author Goldstein, DB
dc.coverage.spatial United States
dc.date.accessioned 2011-06-21T17:31:21Z
dc.date.issued 2010-09-09
dc.identifier http://www.ncbi.nlm.nih.gov/pubmed/20838461
dc.identifier.citation PLoS Genet, 2010, 6 (9), pp. e1001111 - ?
dc.identifier.uri http://hdl.handle.net/10161/4478
dc.description.abstract We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A and ten "control" genomes. We summarize the number of genetic variants emerging from a study of this magnitude, and provide a proof of concept for the identification of rare and highly-penetrant functional variants by confirming that the cause of hemophilia A is easily recognizable in this data set. We also show that the number of novel single nucleotide variants (SNVs) discovered per genome seems to stabilize at about 144,000 new variants per genome, after the first 15 individuals have been sequenced. Finally, we find that, on average, each genome carries 165 homozygous protein-truncating or stop loss variants in genes representing a diverse set of pathways.
dc.format.extent e1001111 - ?
dc.language ENG
dc.language.iso en_US en_US
dc.relation.ispartof PLoS Genet
dc.relation.isversionof 10.1371/journal.pgen.1001111
dc.subject Base Sequence
dc.subject Case-Control Studies
dc.subject DNA Copy Number Variations
dc.subject Databases, Genetic
dc.subject Exons
dc.subject Factor VIII
dc.subject Gene Duplication
dc.subject Gene Knockout Techniques
dc.subject Genetics, Population
dc.subject Genome, Human
dc.subject Genotype
dc.subject Hemophilia A
dc.subject Humans
dc.subject INDEL Mutation
dc.subject Oligonucleotide Array Sequence Analysis
dc.subject Open Reading Frames
dc.subject Polymorphism, Genetic
dc.subject Polymorphism, Single Nucleotide
dc.subject Sequence Analysis, DNA
dc.title The characterization of twenty sequenced human genomes.
dc.title.alternative en_US
dc.type Journal Article
dc.description.version Version of Record en_US
duke.date.pubdate 2010-9-0 en_US
duke.description.endpage e1001111 en_US
duke.description.issue 9 en_US
duke.description.startpage e1001111 en_US
duke.description.volume 6 en_US
dc.relation.journal Plos Genetics en_US
pubs.author-url http://www.ncbi.nlm.nih.gov/pubmed/20838461
pubs.issue 9
pubs.organisational-group /Duke
pubs.organisational-group /Duke/Faculty
pubs.organisational-group /Duke/Institutes and Provost's Academic Units
pubs.organisational-group /Duke/Institutes and Provost's Academic Units/University Institutes and Centers
pubs.organisational-group /Duke/Institutes and Provost's Academic Units/University Institutes and Centers/Duke Institute for Brain Sciences
pubs.organisational-group /Duke/Institutes and Provost's Academic Units/University Institutes and Centers/Global Health Institute
pubs.organisational-group /Duke/School of Medicine
pubs.organisational-group /Duke/School of Medicine/Basic Science Departments
pubs.organisational-group /Duke/School of Medicine/Basic Science Departments/Immunology
pubs.organisational-group /Duke/School of Medicine/Basic Science Departments/Molecular Genetics and Microbiology
pubs.organisational-group /Duke/School of Medicine/Clinical Science Departments
pubs.organisational-group /Duke/School of Medicine/Clinical Science Departments/Medicine
pubs.organisational-group /Duke/School of Medicine/Clinical Science Departments/Medicine/Medicine, Duke Human Vaccine Institute
pubs.organisational-group /Duke/School of Medicine/Institutes and Centers
pubs.organisational-group /Duke/School of Medicine/Institutes and Centers/Duke Cancer Institute
pubs.organisational-group /Duke/School of Medicine/Institutes and Centers/Duke Center for Human Genome Variation
pubs.organisational-group /Duke/School of Medicine/Institutes and Centers/Duke Clinical Research Institute
pubs.organisational-group /Duke/School of Medicine/Institutes and Centers/Duke Human Vaccine Institute
pubs.publication-status Published online
pubs.volume 6
dc.identifier.eissn 1553-7404

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