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Pacific Biosciences, Boston Children's Hospital to Collaborate on Rare Disease Variant Pilot Project

NEW YORK – Pacific Biosciences said on Tuesday that it is collaborating with Boston Children's Hospital to apply its HiFi sequencing technology in a pilot project for the Children's Rare Disease Cohorts Initiative (CRDC).

For the pilot, samples from multiple rare disease cohorts that have remained unsolved using short-read whole-exome sequencing will be examined using HiFi whole-genome sequencing (WGS), PacBio said. The study will also explore epigenetic variation by measuring DNA methylation. PacBio will collaborate with Boston Children's on data analysis, a company spokesperson said.

So far, 48 rare disease cohorts have joined the CRDC, according to PacBio, and nearly 10,000 rare disease patients and their family members have been sequenced. By re-analyzing selected samples from undiagnosed patients, the pilot aims to explore the potential benefits of HiFi WGS in identifying genetic mutations and epigenetic variants associated with rare diseases, such as brain malformations, predisposition to leukemia, congenital hearing loss, epilepsies, and glomerular disease, the firm said.

"HiFi sequencing holds the promise to investigate parts of the genome inaccessible via other technologies," Piotr Sliz, VP and chief research information officer at Boston Children's Hospital, said in a statement. "We hope that HiFi sequencing will enable us to explore variation in parts of the genome that were not previously detected, potentially enabling us to expand our understanding of causative variation in these patients."

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