Variant interpretation through Bayesian fusion of frequency and genomic knowledge

dc.citation.articleNumber4en_US
dc.citation.journalTitleGenome Medicineen_US
dc.citation.volumeNumber7en_US
dc.contributor.authorShaw, Chad A.en_US
dc.contributor.authorCampbell, Ian M.en_US
dc.date.accessioned2017-05-22T18:57:18Zen_US
dc.date.available2017-05-22T18:57:18Zen_US
dc.date.issued2015en_US
dc.description.abstractVariant interpretation is a central challenge in genomic medicine. A recent study demonstrates the power of Bayesian statistical approaches to improve interpretation of variants in the context of specific genes and syndromes. Such Bayesian approaches combine frequency (in the form of observed genetic variation in cases and controls) with biological annotations to determine a probability of pathogenicity. These Bayesian approaches complement other efforts to catalog human variation.en_US
dc.identifier.citationShaw, Chad A. and Campbell, Ian M.. "Variant interpretation through Bayesian fusion of frequency and genomic knowledge." <i>Genome Medicine,</i> 7, (2015) BioMed Central: https://doi.org/10.1186/s13073-015-0129-3.en_US
dc.identifier.doihttps://doi.org/10.1186/s13073-015-0129-3en_US
dc.identifier.urihttps://hdl.handle.net/1911/94327en_US
dc.language.isoengen_US
dc.publisherBioMed Centralen_US
dc.rightsThis is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en_US
dc.titleVariant interpretation through Bayesian fusion of frequency and genomic knowledgeen_US
dc.typeJournal articleen_US
dc.type.dcmiTexten_US
dc.type.publicationpublisher versionen_US
Files
Original bundle
Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
Bayesian-fusion.pdf
Size:
620.65 KB
Format:
Adobe Portable Document Format
Description: