Human disease genes website series: An international, open and dynamic library for up-to-date clinical information

Alexander J.M. Dingemans, Diante E. Stremmelaar, Lisenka E.L.M. Vissers, Sandra Jansen, Maria J. Nabais Sá, Angela van Remortele, Noraly Jonis, Kim Truijen, Sam van de Ven, Jeroen Ewals, Michel Verbruggen, David A. Koolen, Han G. Brunner, Evan E. Eichler, Jozef Gecz, Bert B.A. de Vries

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

Since the introduction of next-generation sequencing, an increasing number of disorders have been discovered to have genetic etiology. To address diverse clinical questions and coordinate research activities that arise with the identification of these rare disorders, we developed the Human Disease Genes website series (HDG website series): an international digital library that records detailed information on the clinical phenotype of novel genetic variants in the human genome (https://humandiseasegenes.info/). Each gene website is moderated by a dedicated team of clinicians and researchers, focused on specific genes, and provides up-to-date—including unpublished—clinical information. The HDG website series is expanding rapidly with 424 genes currently adopted by 325 moderators from across the globe. On average, a gene website has detailed phenotypic information of 14.4 patients. There are multiple examples of added value, one being the ARID1B gene website, which was recently utilized in research to collect clinical information of 81 new patients. Additionally, several gene websites have more data available than currently published in the literature. In conclusion, the HDG website series provides an easily accessible, open and up-to-date clinical data resource for patients with pathogenic variants of individual genes. This is a valuable resource not only for clinicians dealing with rare genetic disorders such as developmental delay and autism, but other professionals working in diagnostics and basic research. Since the HDG website series is a dynamic platform, its data also include the phenotype of yet unpublished patients curated by professionals providing higher quality clinical detail to improve management of these rare disorders.

Original languageEnglish
Pages (from-to)1039-1046
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume185
Issue number4
DOIs
Publication statusPublished or Issued - Apr 2021
Externally publishedYes

Keywords

  • HDG
  • HDG website series
  • HPO
  • clinical data
  • online resource
  • phenotype

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this