Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Diagnostic filtering is an important step to analyze the functional and clinical significance of the large number of genetic variants identified from next-generation genome sequencing data. Here, the authors develop a flexible and scalable system for diagnostic filtering of genetic variants using G2...

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Main Authors:	Anja Thormann, Mihail Halachev, William McLaren, David J. Moore, Victoria Svinti, Archie Campbell, Shona M. Kerr, Marc Tischkowitz, Sarah E. Hunt, Malcolm G. Dunlop, Matthew E. Hurles, Caroline F. Wright, Helen V. Firth, Fiona Cunningham, David R. FitzPatrick
Format:	Article
Language:	English
Published:	Nature Publishing Group 2019-05-01
Series:	Nature Communications
Online Access:	https://doi.org/10.1038/s41467-019-10016-3

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spelling	doaj-ccd9321a1f9b4997aca42718d842068e2021-05-11T11:55:03ZengNature Publishing GroupNature Communications2041-17232019-05-0110111010.1038/s41467-019-10016-3Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEPAnja Thormann0Mihail Halachev1William McLaren2David J. Moore3Victoria Svinti4Archie Campbell5Shona M. Kerr6Marc Tischkowitz7Sarah E. Hunt8Malcolm G. Dunlop9Matthew E. Hurles10Caroline F. Wright11Helen V. Firth12Fiona Cunningham13David R. FitzPatrick14European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome CampusMRC Institute of Genetics and Molecular Medicine at the University of EdinburghEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome CampusSouth East Scotland Regional Genetics Services, Western General HospitalMRC Institute of Genetics and Molecular Medicine at the University of EdinburghCentre for Genomic and Experimental Medicine, Institute of Genetics & Molecular Medicine, Western General Hospital, University of EdinburghCentre for Genomic and Experimental Medicine, Institute of Genetics & Molecular Medicine, Western General Hospital, University of EdinburghClinical Genetic Department, Addenbrooke’s Hospital Cambridge University HospitalsEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome CampusMRC Institute of Genetics and Molecular Medicine at the University of EdinburghWellcome Sanger Institute, Wellcome Genome CampusUniversity of Exeter Medical School, RILD Level 4, Royal Devon & Exeter HospitalClinical Genetic Department, Addenbrooke’s Hospital Cambridge University HospitalsEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome CampusMRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine at the University of EdinburghDiagnostic filtering is an important step to analyze the functional and clinical significance of the large number of genetic variants identified from next-generation genome sequencing data. Here, the authors develop a flexible and scalable system for diagnostic filtering of genetic variants using G2P with Ensembl VEP.https://doi.org/10.1038/s41467-019-10016-3
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Anja Thormann Mihail Halachev William McLaren David J. Moore Victoria Svinti Archie Campbell Shona M. Kerr Marc Tischkowitz Sarah E. Hunt Malcolm G. Dunlop Matthew E. Hurles Caroline F. Wright Helen V. Firth Fiona Cunningham David R. FitzPatrick
spellingShingle	Anja Thormann Mihail Halachev William McLaren David J. Moore Victoria Svinti Archie Campbell Shona M. Kerr Marc Tischkowitz Sarah E. Hunt Malcolm G. Dunlop Matthew E. Hurles Caroline F. Wright Helen V. Firth Fiona Cunningham David R. FitzPatrick Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP Nature Communications
author_facet	Anja Thormann Mihail Halachev William McLaren David J. Moore Victoria Svinti Archie Campbell Shona M. Kerr Marc Tischkowitz Sarah E. Hunt Malcolm G. Dunlop Matthew E. Hurles Caroline F. Wright Helen V. Firth Fiona Cunningham David R. FitzPatrick
author_sort	Anja Thormann
title	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
title_short	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
title_full	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
title_fullStr	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
title_full_unstemmed	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
title_sort	flexible and scalable diagnostic filtering of genomic variants using g2p with ensembl vep
publisher	Nature Publishing Group
series	Nature Communications
issn	2041-1723
publishDate	2019-05-01
description	Diagnostic filtering is an important step to analyze the functional and clinical significance of the large number of genetic variants identified from next-generation genome sequencing data. Here, the authors develop a flexible and scalable system for diagnostic filtering of genetic variants using G2P with Ensembl VEP.
url	https://doi.org/10.1038/s41467-019-10016-3
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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

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