Language
English
Publication Date
11-1-2025
Journal
Nature
DOI
10.1038/s41586-025-09613-8
PMID
41224980
PMCID
PMC13004989
PubMedCentral® Posted Date
3-22-2026
PubMedCentral® Full Text Version
Author MSS
Abstract
Rare diseases are collectively common, affecting approximately 1 in 20 individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in next-generation sequencing, development of new computational and functional genomics approaches to prioritize genes and variants and increased global sharing of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis. The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium was initiated to study thousands of challenging rare disease cases and families and apply, standardize and evaluate emerging genomics technologies and analytics to accelerate their adoption in clinical practice. Furthermore, all data generated, currently representing over 7,500 individuals from over 3,000 families, are rapidly made available to researchers worldwide through the Analysis, Visualization and Informatics Lab-space (AnVIL) to catalyse global efforts to develop approaches for genetic diagnoses in rare diseases. Most of these families have undergone previous clinical genetic testing but remained unsolved, with most being exome-negative. Here we describe the collaborative research framework, datasets and discoveries comprising GREGoR that will provide foundational resources and substrates for the future of rare disease genomics.
Keywords
Humans, Genetic Testing, Genomics, Rare Diseases
Published Open-Access
yes
Recommended Citation
Dawood, Moez; Heavner, Ben; Wheeler, Marsha M; et al., "GREGoR: Accelerating Genomics for Rare Diseases" (2025). Faculty, Staff and Students Publications. 7134.
https://digitalcommons.library.tmc.edu/baylor_docs/7134