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In the study, thirty percent of patients receiving a genome sequencing test obtained a new primary molecular genetic diagnosis.
The expansions were often in exons or near splice junctions of genes involved in nervous system development, the cardiovascular system, and muscle tissue.
In Nucleic Acids Research this week: a web platform that combines large molecular and clinical datasets, a web resource for standardized single-cell RNA sequencing data, and more.
The study suggests that pediatric low-grade gliomas driven by genetic rearrangements tend to be diagnosed earlier and have better outcomes than those driven by SNVs.
Scientists in Canada are looking to the UK's plan to sequence children with rare conditions for inspiration, the National Post reports.
The Common Infrastructure for National Cohorts in Europe, Canada, and Africa (CINECA) project looks to harmonize ontologies and create an interoperability platform for global genomics research.
In PLOS this week: potential cystic fibrosis modifiers, potential kidney cancer survival signature, and more.
The team plans to launch an RNA-seq diagnostic test out of the SickKids clinical laboratory in one year to complement clinical exome sequencing.
The money is being provided under three Genome Canada funding competitions in partnership with the Canadian federal government and other groups.
Researchers found that diagnostic autism NGS panels offered by 21 clinical labs have very little overlap and are working to create a standardized gene list.
AstraZeneca has released its coronavirus vaccine trial protocol, according to the New York Times.
Time magazine looks into how liquid biopsies are changing cancer care.
According to the Guardian, more than 150 countries have signed on to a global SARS-CoV-2 vaccine plan.
In PNAS this week: similar muscle protein patterns across hypertrophic cardiomyopathy phenotypes, analysis of gene expression and brain anatomy in major depression, and more.