GeneDx HiFi Read ProgramGeneDx, the SeqFirst Project, and the New York Centre for Rare Diseases (NYCRD) have combined efforts to assemble a comprehensive cohort of ~700 human whole genomes. These genomes represent a rich, diverse set of samples from individuals either suspected to have a Mendelian condition or individuals ascertained due to higher risk of having a Mendelian condition. All samples were sequenced with high-accuracy long reads (HiFi). GeneDx is a leading clinical diagnostics provider known for its high-throughput genomic testing pipelines. SeqFirst is a research platform at the University of Washington and Seattle Children’s Hospital established to develop and test innovative, genotype-driven service-delivery models that are sustainable and scalable in pediatric care settings that serve diverse communities with varied levels of infrastructure for providing clinical genetic services. NYCRD is part of Montefiore and Einstein, serving as a hub for clinical and translational rare disease investigations. Together, these three groups contributed samples from distinct clinical and research settings, enabling cross-institutional integration and comparative analyses. The unified cohort supports...Access requires approval by the data custodian. The collection's description and structure are public; querying the data requires an approved request.GeneDx HiFi Read Program is published on HiFi Solves.