The Rare Genomes Project (RGP) at the Broad Institute of MIT and Harvard was developed to provide access to genomic research to patients across the United States who are living with undiagnosed, suspected monogenic conditions, and to engage with them as partners in the research process. Since 2017, RGP has enrolled over 1300 families with a variety of clinical phenotypes for whole genome sequencing. This collection includes long-read sequencing data from nearly 200 RGP participants and are made available to the HiFi Solves Consortium to support data sharing in search of diagnoses for families and to further the scientific understanding of rare diseases. Please contact the team to share potential diagnostic findings or interest in collaborating. Organisation: The Broad Institute of MIT and Harvard PIs and/or contributors: Anne O'Donnell-Luria, MD, PhD, Melanie O'Leary, MS, CGC, Heidi Rehm, PhD, FACMG and Monica Wojcik, MD, MPH Study webpage: https://raregenomes.org/ Publications: https://raregenomes.org/publications-new Contact: raregenomes@broadinstitute.org
Access requires approval by the data custodian. The collection's description and structure are public; querying the data requires an approved request.
Broad Institute Rare Genomes Project is published on HiFi Solves.