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

Friederike Ehrhart; Egon L. Willighagen; Martina Kutmon; Max van Hoften; Leopold M. G. Curfs; Chris T. Evelo

doi:10.1038/s41597-021-00905-y

Scientific Data (May 2021)

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

Friederike Ehrhart,
Egon L. Willighagen,
Martina Kutmon,
Max van Hoften,
Leopold M. G. Curfs,
Chris T. Evelo

Affiliations

Friederike Ehrhart: Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University
Egon L. Willighagen: Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University
Martina Kutmon: Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University
Max van Hoften: Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University
Leopold M. G. Curfs: Governor Kremers Centre - Rett Expertise Centre, Maastricht University Medical Center
Chris T. Evelo: Department of Bioinformatics - BiGCaT, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University

DOI: https://doi.org/10.1038/s41597-021-00905-y
Journal volume & issue: Vol. 8, no. 1
pp. 1 – 8

Abstract

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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

Published in Scientific Data

ISSN: 2052-4463 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/sdata/

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