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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/ccd9321a1f9b4997aca42718d842068e
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spelling	oai:doaj.org-article:ccd9321a1f9b4997aca42718d842068e2021-12-02T14:39:37ZFlexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP10.1038/s41467-019-10016-32041-1723https://doaj.org/article/ccd9321a1f9b4997aca42718d842068e2019-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-10016-3https://doaj.org/toc/2041-1723Diagnostic 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.Anja ThormannMihail HalachevWilliam McLarenDavid J. MooreVictoria SvintiArchie CampbellShona M. KerrMarc TischkowitzSarah E. HuntMalcolm G. DunlopMatthew E. HurlesCaroline F. WrightHelen V. FirthFiona CunninghamDavid R. FitzPatrickNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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
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.
format	article
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
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 Portfolio
publishDate	2019
url	https://doaj.org/article/ccd9321a1f9b4997aca42718d842068e
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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

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