Personalised analytics for rare disease diagnostics

Genome sequencing is being widely adopted for diagnosis of genetic diseases, but identifying the causal variants remains challenging. Here, the authors introduce a tool that incorporates tissue-specific gene expression data into predicting variant pathogenicity, improving accuracy.

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Detalles Bibliográficos
Autores principales:	Denise Anderson, Gareth Baynam, Jenefer M. Blackwell, Timo Lassmann
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/63acb38dd4c14d16b5884b95ac16f5b9
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id	oai:doaj.org-article:63acb38dd4c14d16b5884b95ac16f5b9
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spelling	oai:doaj.org-article:63acb38dd4c14d16b5884b95ac16f5b92021-12-02T14:39:03ZPersonalised analytics for rare disease diagnostics10.1038/s41467-019-13345-52041-1723https://doaj.org/article/63acb38dd4c14d16b5884b95ac16f5b92019-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-13345-5https://doaj.org/toc/2041-1723Genome sequencing is being widely adopted for diagnosis of genetic diseases, but identifying the causal variants remains challenging. Here, the authors introduce a tool that incorporates tissue-specific gene expression data into predicting variant pathogenicity, improving accuracy.Denise AndersonGareth BaynamJenefer M. BlackwellTimo LassmannNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Denise Anderson Gareth Baynam Jenefer M. Blackwell Timo Lassmann Personalised analytics for rare disease diagnostics
description	Genome sequencing is being widely adopted for diagnosis of genetic diseases, but identifying the causal variants remains challenging. Here, the authors introduce a tool that incorporates tissue-specific gene expression data into predicting variant pathogenicity, improving accuracy.
format	article
author	Denise Anderson Gareth Baynam Jenefer M. Blackwell Timo Lassmann
author_facet	Denise Anderson Gareth Baynam Jenefer M. Blackwell Timo Lassmann
author_sort	Denise Anderson
title	Personalised analytics for rare disease diagnostics
title_short	Personalised analytics for rare disease diagnostics
title_full	Personalised analytics for rare disease diagnostics
title_fullStr	Personalised analytics for rare disease diagnostics
title_full_unstemmed	Personalised analytics for rare disease diagnostics
title_sort	personalised analytics for rare disease diagnostics
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/63acb38dd4c14d16b5884b95ac16f5b9
work_keys_str_mv	AT deniseanderson personalisedanalyticsforrarediseasediagnostics AT garethbaynam personalisedanalyticsforrarediseasediagnostics AT jenefermblackwell personalisedanalyticsforrarediseasediagnostics AT timolassmann personalisedanalyticsforrarediseasediagnostics
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Personalised analytics for rare disease diagnostics

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