Skip to main content
Premium Trial:

Request an Annual Quote

Pacific Biosciences, Rady Children's Collaborate on Study of WGS-Based Rare Disease Dx

NEW YORK – Pacific Biosciences and the Rady Children's Institute for Genomic Medicine, or RCIGM, said on Wednesday they are collaborating on a study using whole-genome sequencing to diagnose rare diseases.

The study, already underway, will focus on using long-read sequencing in cases of rare disease for which short-read whole-genome and whole-exome sequencing did not provide a diagnosis. Already, the partners have detected missense mutations in known disease genes, they said in a statement.

"PacBio HiFi sequencing can identify numerous variants, both small and structural, that are not readily detectable by short-read sequencing," Matthew Bainbridge, associate director of clinical genomics at RCIGM, said in a statement. "We sequenced this cohort of patients to 10-to-30x depth of coverage using [HiFi sequencing] to assess whether there was an increase in the identification of these variants."

Financial and other terms of the collaboration were not disclosed.

Rady Children's joins a growing list of partners for PacBio as the company tries to make the case for clinical whole-genome long-read sequencing, especially in pediatrics. The Menlo Park, California-based sequencing technology company has a similar partnership with Children's Mercy Kansas City and Microsoft. It is also collaborating with Invitae to develop a clinical WGS platform and WGS-based testing for pediatric epilepsy.

In 2018, Rady Children's launched a $2 million pilot project to offer rapid WGS to critically ill newborns.

The Scan

Review of Approval Process

Stat News reports the Department for Health and Human Services' Office of the Inspector General is to investigate FDA's approval of Biogen's Alzheimer's disease drug.

Not Quite Right

A new analysis has found hundreds of studies with incorrect nucleotide sequences reported in their methods, according to Nature News.

CRISPR and mRNA Together

Time magazine reports on the use of mRNA to deliver CRISPR machinery.

Nature Papers Present Smartphone Platform for DNA Diagnosis of Malaria, Mouse Lines for Epigenomic Editing

In Nature this week: a low-cost tool to detect infectious diseases like malaria, and more.