PacBio and Children’s Mercy Kansas City expand collaboration in rare disease
pharmafile | April 21, 2022 | News story | Business Services |
PacBio has announced an expanded research collaboration with Children’s Mercy Kansas City, to use the multi-omics capabilities of PacBio’s Sequel IIe system in the study of genetic disease. The research will apply direct methylation detection and Iso-Seq full-length RNA sequencing in their study.
The aim of this collaboration is to study new methods for the potential detection of rare diseases.
PacBio recently enhanced its Sequel IIe system to detect DNA methylation in human genomes at no additional cost, time, or complexity in library preparation or analysis.
“Our continued collaboration with Children’s Mercy is a great example of PacBio’s technology being used at breadth, depth, and scale,” said Christian Henry, President and CEO of PacBio. “We believe the Sequel IIe system provides the world’s best genomes, and is capable of delivering the most complete methylomes and full-length RNA isoform sequencing. Layering on this rich multi-omics information could potentially yield better insights into the genetic basis of rare disease and provide answers for some families.”
“We aim to expand sequencing from its interpretation of DNA alone to an integrated test of DNA sequence and its function – in the past we used multiple platforms to achieve the necessary genome characterisation,” said Tomi Pastinen, MD, PhD, Director, Genomic Medicine Center, Children’s Mercy Kansas City.
“The systematic application of RNA testing using Iso-Seq and direct methylation detection in HiFi-GS yields information about gene regulation and epigenetic state. We are now working on integrated analyses across hundreds of our unsolved cases and we hope to identify new, previously veiled genomic variants that may be associated with rare disease.”
Lina Adams
