Ambry Genetics and PacBio Announce Collaboration to Sequence Up to 7,000 Human Genomes Aimed at Providing Answers for Families Battling Rare Diseases

Core Insights - The GREGoR Consortium has selected Ambry Genetics and PacBio to support the Pediatric Mendelian Genomics Research Center program aimed at understanding rare diseases [1][2] - The initiative will utilize long-read sequencing technology to analyze up to 7,000 human whole genomes over three years, focusing on rare disease etiology [2][3] Company Overview - Ambry Genetics is a leader in clinical genomic testing, translating scientific research into actionable test results and has a strong track record in genetic disease understanding [5] - PacBio specializes in advanced sequencing solutions, focusing on accuracy and quality through its HiFi long-read and SBB short-read sequencing technologies [6] Research Objectives - The collaboration aims to enhance understanding of rare diseases by incorporating innovative methods such as phenotyping, variant identification, and functional analysis of genetic alterations [3][4] - The project seeks to discover new rare variants and understand the role of epigenomics in disease manifestation, potentially revolutionizing diagnostic capabilities [3][4]