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dc.contributor.authorChubb, Den_US
dc.contributor.authorBroderick, Pen_US
dc.contributor.authorDobbins, SEen_US
dc.contributor.authorHoulston, RSen_US
dc.date.accessioned2016-12-09T10:27:16Z
dc.date.issued2016-01en_US
dc.identifier.citationF1000Research, 2016, 5 pp. 2813 - ?en_US
dc.identifier.issn2046-1402en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/317
dc.identifier.eissn2046-1402en_US
dc.identifier.doi10.12688/f1000research.10058.1en_US
dc.description.abstractThe advent of high-throughput sequencing has accelerated our ability to discover genes predisposing to disease and is transforming clinical genomic sequencing. In both contexts knowledge of the spectrum and frequency of genetic variation in the general population and in disease cohorts is vital to the interpretation of sequencing data. While population level data is becoming increasingly available from publicly accessible sources, as exemplified by The Exome Aggregation Consortium (ExAC), the availability of large-scale disease-specific frequency information is limited. These data are of particular importance to contextualise findings from clinical mutation screens and small gene discovery projects. This is especially true for cancer, which is typified by a number of hereditary predisposition syndromes.  Although mutation frequencies in tumours are available from resources such as Cosmic and The Cancer Genome Atlas, a similar facility for germline variation is lacking. Here we present the Cancer Variation Resource (CanVar) an online database which has been developed using the ExAC framework to provide open access to germline variant frequency data from the sequenced exomes of cancer patients. In its first release, CanVar catalogues the exomes of 1,006 familial early-onset colorectal cancer (CRC) patients sequenced at The Institute of Cancer Research. It is anticipated that CanVar will host data for additional cancers, providing a resource for others studying cancer predisposition and an example of how the research community can utilise the ExAC framework to share sequencing data.en_US
dc.formatElectronic-eCollectionen_US
dc.format.extent2813 - ?en_US
dc.languageengen_US
dc.language.isoengen_US
dc.titleCanVar: A resource for sharing germline variation in cancer patients.en_US
dc.typeJournal Article
dcterms.dateAccepted2016-11-28en_US
rioxxterms.versionofrecord10.12688/f1000research.10058.1en_US
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0en_US
rioxxterms.licenseref.startdate2016-01en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfF1000Researchen_US
pubs.notesNo embargoen_US
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Molecular & Population Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics
pubs.publication-statusPublisheden_US
pubs.volume5en_US
pubs.embargo.termsNo embargoen_US
icr.researchteamMolecular & Population Geneticsen_US
dc.contributor.icrauthorChubb, Danielen_US
dc.contributor.icrauthorBroderick, Peteren_US
dc.contributor.icrauthorHoulston, Richarden_US


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