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Ambry Genetics and PacBio partner to advance rare disease research in pediatric genomics
Precision Medicine
May 15, 2024
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Precision Medicine

Precision Medicine

May 15, 2024

Ambry Genetics and PacBio partner to advance rare disease research in pediatric genomics

Partnerships

  • Ambry Genetics and PacBio have partnered to support the Pediatric Mendelian Genomics Research Center program, which is managed by the University of California, Irvine, and the GREGoR Consortium.

  • The collaboration aims to identify genetic causes of rare diseases undiscovered by previous studies. Over a period of three years, the project will employ long-read sequencing technology to sequence and analyze up to 7,000 human genomes. The goal is to develop insights into the causes of rare diseases, create analytical methods for genetic data, and discover potential treatments.

  • Pacific Biosciences of California (PacBio) is a biotechnology company specializing in developing and manufacturing advanced sequencing systems. PacBio has developed its Single Molecule, Real-Time (SMRT) sequencing technology, which enables accurate long-read sequencing. The company's products serve various scientific applications, including human genomics, plant and animal sciences, and microbial genomics.

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