Skip to main content
Premium Trial:

Request an Annual Quote

Ambry Genetics, Pacific Biosciences to Sequence up to 7K Human Genomes for Rare Disease Study

NEW YORK – Ambry Genetics and Pacific Biosciences said Wednesday that they will sequence up to 7,0000 human whole genomes over three years using long-read technology as part of a National Institutes of Health-funded consortium studying rare disease.

The firms said they were selected by the University of California, Irvine and the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium to support a program to understand the genetic causes of rare diseases.

The initiative will sequence samples from patients for whom prior genomic analysis did not yield answers and will strive to better understand rare disease biology using phenotyping, variant identification, and functional analysis of both coding and noncoding sequences.

The researchers will build new analysis pipelines for genomic and epigenomic data with hopes to discover new Mendelian gene variations and to better categorize previously identified variants of unknown significance.

"There remain a multitude of rare diseases that are difficult to diagnose, and for which effective treatments remain elusive," Eric Vilain, director of the Institute for Clinical and Translational Science at UCI, said in a statement. "Our research endeavors aim to shed light on these complexities, revealing insights that legacy technologies struggle to uncover."

Ambry, a subsidiary of Realm IDx (formerly known as Konica Minolta Precision Medicine), offers clinical genomic testing.

Pacific Biosciences offers long-read sequencing technology that includes methylation data.

GREGoR funding includes $14.3 million earmarked in 2020 for multiple research centers. In addition to UCI, those centers are at the Broad Institute, Baylor College of Medicine, Stanford University, and the University of Washington.

In March, PacBio said the Estonian Biobank would sequence 10,000 human genomes using its Revio sequencer. The firm has multiple collaborations harnessing its whole-genome sequencing technology for rare disease research and diagnosis, including with GeneDx and the New York Center for Rare Diseases.