In an abstract to be presented at ASHG, Baylor Genetics researchers will discuss how Emedgene's AI-driven platform helped them streamline and standardize sequencing review.
An international team documented TP53 mutation-related genomic changes across dozens of cancer types using data generated with five platforms for the Cancer Genome Atlas project.
Reanalyzing clinical exomes from 2011 to 2013 increased molecular diagnostic yields significantly, leading to clinical management changes, in some cases.
In Genome Research this week: repetitive element deletion linked to altered methylation and more in form of muscular dystrophy; human contamination in draft bacterial and archaeal genomes; and more.
By studying koalas and a retrovirus that infects them, researchers may have uncovered a new sort of 'immune response' that occurs at the genomic level, Agence France Presse reports.
In Science this week: ancient genomes reveal social inequality within individual households, new method for quantifying genetic variation in gene dosage, and more.
