Variant interpretation through Bayesian fusion of frequency and genomic knowledge

Variant 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 geneti...

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Detalles Bibliográficos
Autores principales: Shaw, Chad A, Campbell, Ian M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Highlight
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308929/
https://www.ncbi.nlm.nih.gov/pubmed/25632303
http://dx.doi.org/10.1186/s13073-015-0129-3
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author Shaw, Chad A
Campbell, Ian M
author_facet Shaw, Chad A
Campbell, Ian M
author_sort Shaw, Chad A
collection PubMed
description Variant 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. See related Research; 10.1186/s13073-014-0120-4
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spelling pubmed-43089292015-01-29 Variant interpretation through Bayesian fusion of frequency and genomic knowledge Shaw, Chad A Campbell, Ian M Genome Med Research Highlight Variant 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. See related Research; 10.1186/s13073-014-0120-4 BioMed Central 2015-01-28 /pmc/articles/PMC4308929/ /pubmed/25632303 http://dx.doi.org/10.1186/s13073-015-0129-3 Text en © Shaw and Campbell; licensee BioMed Central. 2015 This 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.
spellingShingle Research Highlight
Shaw, Chad A
Campbell, Ian M
Variant interpretation through Bayesian fusion of frequency and genomic knowledge
title Variant interpretation through Bayesian fusion of frequency and genomic knowledge
title_full Variant interpretation through Bayesian fusion of frequency and genomic knowledge
title_fullStr Variant interpretation through Bayesian fusion of frequency and genomic knowledge
title_full_unstemmed Variant interpretation through Bayesian fusion of frequency and genomic knowledge
title_short Variant interpretation through Bayesian fusion of frequency and genomic knowledge
title_sort variant interpretation through bayesian fusion of frequency and genomic knowledge
topic Research Highlight
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308929/
https://www.ncbi.nlm.nih.gov/pubmed/25632303
http://dx.doi.org/10.1186/s13073-015-0129-3
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AT campbellianm variantinterpretationthroughbayesianfusionoffrequencyandgenomicknowledge

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