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

Bibliographic Details
Main Authors: Friederike Ehrhart, Egon L. Willighagen, Martina Kutmon, Max van Hoften, Leopold M. G. Curfs, Chris T. Evelo
Format: Article
Language:English
Published: Nature Publishing Group 2021-05-01
Series:Scientific Data
Online Access:https://doi.org/10.1038/s41597-021-00905-y
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spelling doaj-6fe54ea16ad4454ebd64977d50fff91c2021-05-09T11:40:29ZengNature Publishing GroupScientific Data2052-44632021-05-01811810.1038/s41597-021-00905-yA resource to explore the discovery of rare diseases and their causative genesFriederike Ehrhart0Egon L. Willighagen1Martina Kutmon2Max van Hoften3Leopold M. G. Curfs4Chris T. Evelo5Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht UniversityDepartment of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht UniversityDepartment of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht UniversityDepartment of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht UniversityGovernor Kremers Centre - Rett Expertise Centre, Maastricht University Medical CenterDepartment of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht UniversityMeasurement(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.14140661https://doi.org/10.1038/s41597-021-00905-y
collection DOAJ
language English
format Article
sources DOAJ
author Friederike Ehrhart
Egon L. Willighagen
Martina Kutmon
Max van Hoften
Leopold M. G. Curfs
Chris T. Evelo
spellingShingle 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
Scientific Data
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 Publishing Group
series Scientific Data
issn 2052-4463
publishDate 2021-05-01
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
url https://doi.org/10.1038/s41597-021-00905-y
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