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.
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.
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.
In PNAS this week: similar muscle protein patterns across hypertrophic cardiomyopathy phenotypes, analysis of gene expression and brain anatomy in major depression, and more.
