The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources.

ABSTRACT:

Purpose

With exome sequencing now standard, diagnostic labs are in need of a, in principle, to-the-day-accurate list of genes associated with rare diseases. Manual curation efforts are slow and often disease specific, while efforts relying on single sources are too inaccurate and may result in false-positive or false-negative genes.

Methods

We established the MorbidGenes panel based on a list of publicly available databases: OMIM, PanelApp, SysNDD, ClinVar, HGMD and GenCC. A simple logic allows inclusion of genes that are supported by at least one of these sources, providing a list of all genes with diagnostic relevance.

Results

The panel is freely available at https://morbidgenes.uni-leipzig.de and currently includes 5037 genes (as of October 2024) with minimally suf

SUBMITTER: Jauss RT 

PROVIDER: S-EPMC11576763 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature