Organization The Pediatric Mendelian Genomics Research Center (PMGRC) at the University of California, Irvine, is one of 5 genomics research centers participating in the Genomics Research to Elucidate the Genetics of Rare Disease (GREGoR) Consortium, under the National Institutes of Health (NIH). The purpose of this research study is to better understand how differences in genetic material affect human health and to increase the number of genetic disorders where a cause can be identified. The PMGRC uses new genome analysis technologies to uncover causes of genetic conditions by improving gene discovery and clarifying variants of uncertain significance. PIs/Contributors Dr. Eric Vilain Study Webpage https://sites.uci.edu/gregor/ https://gregorconsortium.org Workflow Used PacBio HiFi-human-WGS-WDL, assorted versions Contact GREGOR@hs.uci.edu
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UCI PMGRC PacBio WGS is published on HiFi Solves.