Pacific Biosciences, Rady Children's team up on whole genome sequencing

By The Science Advisory Board staff writers

June 24, 2021 -- Pacific Biosciences and Rady Children's Institute announced they are working together on a study that will identify potential disease-causing genetic variants.

The study will make use of Pacific Biosciences' single molecular, real-time sequencing technology and its HiFi "long-read" whole genome sequencing, which can identify genetic variants of rare diseases better than "short-read" whole genome sequencing can, according to the two organizations. In the study, the groups sequenced a cohort of patients to 10x-30x depth of coverage using Pacific Biosciences HiFi long-read technology to assess whether there was an increase in the identification of small and structural variants that are not easily detectable with short-read sequencing technologies.

"With this new technology, we are excited to see how many more of these children and families will receive additional insight regarding the identification of potential disease-causing genetic variants," said Dr. Stephen Kingsmore, president and CEO of Rady Children's Institute for Genomic Medicine.

Report identifies 8 areas of growth in genetics/genomics industry
With a $265 billion contribution to the U.S. economy in 2019 alone, the human genetics and genomics industry is thriving and promises to have a major...
Multiomics approach profiles molecular characteristics of glioblastoma
A team of more than 40 investigators has created a profile of the genes, proteins, infiltrating cells, and signaling pathways of the deadly brain cancer...
Superspreader events drive global SARS-CoV-2 transmission
So-called "superspreader events" have been a major contributor to widespread transmission of the SARS-CoV-2 virus, according to a new analysis of outbreaks...
A 'Pac-Man' like CRISPR system could enable larger gene edits
A new CRISPR tool utilizes Cas3 to remove larger than normal stretches of DNA both quickly and accurately. The tool, described in an October 19 article...
San Diego research institutes study spread of COVID-19
San Diego medical and scientific research institutes launched a large-scale COVID-19 screening research study with an initial focus on evaluating healthcare...

Copyright © 2021 scienceboard.net


Conferences
Infectious Diseases (ID) Week 2021
September 29 - October 3
San Diego, California United States
Imaging Mass Spectrometry Society (IMSS) 3 in 2021
October 3-6
Colorado Springs, Colorado United States
Cell & Gene Meeting on the Mesa
October 10-14
Carlsbad, California United States
Connect
Science Advisory Board on LinkedIn
Science Advisory Board on Facebook
Science Advisory Board on Twitter