Ambry Genetics, along with PacBio announced their companies' selection by the University of California, Irvine (UCI) and the GREGoR Consortium (Genomics Research to Elucidate theetics of Rare diseases) to support the Pediatric Mendelian Genomics Research Center (MGRC) program to better understand the underlying biology of rare diseases. The GREGoR Consortium is a National Institutes of Health-funded collaborative effort which aims to transform the landscape of Mendelian disease research by identifying the underlying genetic cause of rare disease in samples from individuals for whom prior genomic analysis did not yield answers. This ambitious research, among the largest programs of its kind, will use long-read sequencing technology to sequence and analyze up to 7,000 human whole genomes over three years, with a focus on developing new insights into rare disease etiology.

This pioneering initiative unites leading genomics researchers who will work collaboratively to incorporate innovative methods for understanding the biology of rare disease including phenotyping, variant identification, and functional analysis of both coding and non-coding sequence alterations. By using highly accurate 5-base, long-read sequencing technology, the researchers hope to discover new rare variants and to understand the role of epigenomics on disease manifestation. By building new analysis pipelines for these genomic and epigenomic data, the researchers hope to discovery new Mendelian gene variations and to better categorize previously identified variants of unknown significance.