At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.
A genomic and transcriptomic analysis of an aggressive form of leukemia suggests that subtypes differ in their prognosis and may respond to different therapies.
The hospital is in the process of clinically validating a sequencing pipeline for its pediatric cancer patients, with the goal of demonstrating clinical utility.
The issue, discovered in late October, affected TMB reporting for up to 800 FoundationOne CDx tests during a short period of time and was quickly resolved.
The study looked at chromatin accessibility in 410 TCGA tumors in the context of broader genomic features to explore functional effects of regulatory features.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.
