GREGoR: Accelerating Genomics for Rare Diseases
Abstract
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange 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. Further, all data generated, currently representing ~7500 individuals from ~3000 families, is rapidly made available to researchers worldwide via the Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL) to catalyze global efforts to develop approaches for genetic diagnoses in rare diseases (https://gregorconsortium.org/data). The majority of these families have undergone prior 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
Cite
@article{arxiv.2412.14338,
title = {GREGoR: Accelerating Genomics for Rare Diseases},
author = {Moez Dawood and Ben Heavner and Marsha M. Wheeler and Rachel A. Ungar and Jonathan LoTempio and Laurens Wiel and Seth Berger and Jonathan A. Bernstein and Jessica X. Chong and Emmanuèle C. Délot and Evan E. Eichler and Richard A. Gibbs and James R. Lupski and Ali Shojaie and Michael E. Talkowski and Alex H. Wagner and Chia-Lin Wei and Christopher Wellington and Matthew T. Wheeler and GREGoR Partner Members and Claudia M. B. Carvalho and Casey A. Gifford and Susanne May and Danny E. Miller and Heidi L. Rehm and Fritz J. Sedlazeck and Eric Vilain and Anne O'Donnell-Luria and Jennifer E. Posey and Lisa H. Chadwick and Michael J. Bamshad and Stephen B. Montgomery and Genomics Research to Elucidate the Genetics of Rare Diseases and Consortium},
journal= {arXiv preprint arXiv:2412.14338},
year = {2024}
}