Boston Children's to use sequencing tech to identify rare pediatric diseases

Boston Children's Hospital is partnering with PacBio to use its HiFi sequencing technology to identify rare pediatric diseases.

The health system's researchers will pilot the technology for the Children's Rare Disease Cohorts Initiative, according to a Dec. 6 press release from PacBio. The aim is to use the technology to investigate genetic and epigenetic variants associated with rare pediatric diseases.

The technology will examine samples from individuals enrolled in multiple rare disease cohorts. 

"HiFi sequencing holds the promise to investigate parts of the genome inaccessible via other technologies," said Piotr Sliz, PhD, vice president and chief research information officer at Boston Children's Hospital. "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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