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Ambry Genetics and PacBio Announce Collaboration To Sequence up to 7,000 Human Genomes

Double helix structure of DNA.
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Ambry Genetics, along with PacBio (NASDAQ: PACB), announced their companies’ selection by the University of California, Irvine (UCI) and the GREGoR Consortium (Genomics Research to Elucidate the Genetics 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. 

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"There remain a multitude of rare diseases that are difficult to diagnose, and for which effective treatments remain elusive,” said Eric Vilain M.D., Ph.D., director of the Institute for Clinical and Translational Science and the associate vice chancellor for Clinical and Translational Science at UCI. “Our research endeavors aim to shed light on these complexities, revealing insights that legacy technologies struggle to uncover. Collaborating with our partners at Ambry Genetics and PacBio, we are poised to enhance our comprehension of rare diseases and in the future revolutionize diagnostic capabilities. This collaborative effort is designed to offer hope not only to families in our study, but to all families looking to unlock answers for children facing rare diseases."


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 discover new Mendelian gene variations and to better categorize previously identified variants of unknown significance. 


“Over the past few years, we’ve collaborated with leading genomics researchers around the world to advance the scientific community’s understanding of the genomic basis of rare disease,” said Christian Henry, President and Chief Executive Officer of PacBio. “This project with the GREGoR team represents a significant step forward for us. We hope that by partnering with scientists at U.C. Irvine and geneticists from Ambry Genetics, we will not only be able to help families better understand the underlying causes of rare disease, but also to identify new analysis pipelines that can speed this process for other labs.” 


“Through this collaboration, we will continue to advance the scientific community’s understanding of rare disease and to support both patients enrolled in this study and others whose exomes were sequenced previously through our Patient for Life program,” said Tom Schoenherr, CEO of Ambry Genetics. “This collaboration is an example of our steadfast commitment to excellence in genomics and relentless pursuit of innovation, which has been a driving force behind our work since we launched our first clinical offering for rare disease diagnosis more than 20 years ago.”