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

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by a dedicated team of clinicians and researchers, focused on specific genes, and provides up-to-date-including unpublished-clinical information.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

SUBMITTER: Dingemans AJM 

PROVIDER: S-EPMC7986414 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature