PacBio and Boston Children’s Hospital to study genome to benefit patients

rare disease genetics

PacBio, a developer of sequencing solutions, says its HiFi sequencing technology will be used in a pilot project for the Children’s Rare Disease Cohorts Initiative (CRDC) at Boston Children’s Hospital in the U.S. 

Boston Children’s Hospital researchers will use HiFi whole-genome sequencing (HiFi WGS) for the purpose of investigating genetic and epigenetic variants associated with rare pediatric diseases. Samples from individuals enrolled in multiple rare disease cohorts that have remained undiagnosed after short-read whole exome sequencing will be examined using HiFi WGS. The study will also explore epigenetic variation using the ability of HiFi WGS to measure DNA methylation in every sequencing run.

“PacBio’s technology has been used to help genetic disease researchers explain mysteries where other technologies could not,” said Jonas Korlach, chief scientific officer at PacBio. 

“We are excited to support the CRDC to help uncover the answers they have been seeking. In previous research conducted using PacBio’s technology, HiFi sequencing detected more than two-fold structural variants and 200,000 more single-nucleotide variants than short-read sequencing. Structural variants contributed to over twice the number of new explanations.”

“HiFi sequencing holds the promise to investigate parts of the genome inaccessible via other technologies,” said Piotr Sliz, 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.”


The CRDC supports genomics research around strategically selected disease areas at Boston Children’s Hospital and is led by the CRDC Steering Group. As of today, 48 rare disease cohorts have joined the CRDC and nearly 10,000 patients with rare disease and their family members have been sequenced. As causative variants are identified by CRDC researchers, results are returned to participants. Researchers participating in the CRDC have uncovered novel mutations, are developing targeted therapies and are matching patients with innovative clinical trials.

The pilot project will re-sequence a selection of samples from patients who were previously analyzed with short-read sequencing technology that are strongly suspected to have a genetic condition but have not yet been diagnosed. The study is intended to explore the potential benefits of HiFi WGS in identifying genetic mutations and epigenetic variants associated with rare diseases, in particular those that may be associated with a range of conditions, such as brain malformations, predisposition to leukemia, congenital hearing loss, epilepsies, and glomerular disease.

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