Children’s Mercy develops sequencing system for research

By LabPulse.com staff writers

September 19, 2022 -- The Children’s Mercy Kansas City Research Institute on Monday announced an advance in human genome research through a novel genomic sequencing system.

The system uses 5-base genomic sequencing to allow researchers to sequence the full genome and methylome and extract its function. This will allow them to see disease variations that had not been revealed in previous single tests, Children's Mercy said.

"The technology allows us to see into part of the human genome that has never been clinically tested and interpret changes beyond genetic code," Dr. Tomi Pastinen, director at Children's Mercy Kansas City's Genomic Medicine Center, said in a statement.

Dr. Pastinen used the system as part of the Genomic Answers for Kids (GA4K) program at Children's Mercy, a pediatric data repository that collected genomic data for 30,000 children over a period of seven years. Three years into the program's launch, Dr. Pastinen and his team diagnosed 1,000 rare diseases, 300 of which had been detected through 5-base sequencing, Children's Mercy said.

Children's Mercy also said that these analyzed genomes had several rare functional variations unique to each patient, expanding the "genome alphabet" available to study for unsolved rare diseases.

These advancements in genomic sequencing have led other health care organizations and undiagnosed disease clinics to collaborate with Dr. Pastinen and his team, Children's Mercy said. Such organizations include Hassenfeld Children's Hospital and the Center for Human Genetics and Genomics at New York University Langone Health.

Dante Genomics, TMA Precision Health partner on WGS
Dante Genomics on Thursday announced a partnership with TMA Precision Health to provide clinical whole genome sequencing (WGS) for patients with rare...
All SARS-CoV-2 infections include multiple variants: study
Researchers have found wide genetic variation in SARS-CoV-2 viruses among 360 patients whose viral infections were genetically sequenced.
At-home blood collection kits deployed for sequencing tests
Dante Genomics announced on Tuesday that it will begin using needleless, at-home blood collection kits for its clinical whole genome sequencing tests.
Mount Sinai, Regeneron launch large-scale sequencing project
Mount Sinai Health System and the Icahn School of Medicine at Mount Sinai have launched a human genome sequencing research project with the Regeneron...

Copyright © 2022 LabPulse.com

Last Updated mp 9/19/2022 12:20:48 PM