A resource to explore the discovery of rare diseases and their causative genes

A resource to explore the discovery of rare diseases and their causative genes

Measurement(s) Gene_Associated_With_Disease • genetic disorder Technology Type(s) digital curation Factor Type(s) disease Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing the reported data: https://doi.org/10.6084/m9.figshare.14140661

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Autores principales: Friederike Ehrhart, Egon L. Willighagen, Martina Kutmon, Max van Hoften, Leopold M. G. Curfs, Chris T. Evelo
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Q
Acceso en línea:https://doaj.org/article/6fe54ea16ad4454ebd64977d50fff91c
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spelling oai:doaj.org-article:6fe54ea16ad4454ebd64977d50fff91c2021-12-02T14:29:04ZA resource to explore the discovery of rare diseases and their causative genes10.1038/s41597-021-00905-y2052-4463https://doaj.org/article/6fe54ea16ad4454ebd64977d50fff91c2021-05-01T00:00:00Zhttps://doi.org/10.1038/s41597-021-00905-yhttps://doaj.org/toc/2052-4463Measurement(s) Gene_Associated_With_Disease • genetic disorder Technology Type(s) digital curation Factor Type(s) disease Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing the reported data: https://doi.org/10.6084/m9.figshare.14140661Friederike EhrhartEgon L. WillighagenMartina KutmonMax van HoftenLeopold M. G. CurfsChris T. EveloNature PortfolioarticleScienceQENScientific Data, Vol 8, Iss 1, Pp 1-8 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Friederike Ehrhart
Egon L. Willighagen
Martina Kutmon
Max van Hoften
Leopold M. G. Curfs
Chris T. Evelo
A resource to explore the discovery of rare diseases and their causative genes
description Measurement(s) Gene_Associated_With_Disease • genetic disorder Technology Type(s) digital curation Factor Type(s) disease Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing the reported data: https://doi.org/10.6084/m9.figshare.14140661
format article
author Friederike Ehrhart
Egon L. Willighagen
Martina Kutmon
Max van Hoften
Leopold M. G. Curfs
Chris T. Evelo
author_facet Friederike Ehrhart
Egon L. Willighagen
Martina Kutmon
Max van Hoften
Leopold M. G. Curfs
Chris T. Evelo
author_sort Friederike Ehrhart
title A resource to explore the discovery of rare diseases and their causative genes
title_short A resource to explore the discovery of rare diseases and their causative genes
title_full A resource to explore the discovery of rare diseases and their causative genes
title_fullStr A resource to explore the discovery of rare diseases and their causative genes
title_full_unstemmed A resource to explore the discovery of rare diseases and their causative genes
title_sort resource to explore the discovery of rare diseases and their causative genes
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/6fe54ea16ad4454ebd64977d50fff91c
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