The tool, called Cerebro, significantly outperformed other publicly available methods, including in the less-trafficked areas of the genome that are now relevant for TMB immunotherapy prediction.
MSKCC investigators showed that truncated mRNAs can inactivate tumor suppressor genes, fueling cancer development even without the presence of DNA mutations.
In a pair of commentaries, researchers critique last year's paper reporting the use of CRISPR/Cas9 to correct a mutation in viable human embryos.
In Cell this week: structural variants affecting regulatory loci in prostate cancer, immune features in the breast cancer microenvironment, and more.
In Nature this week: genomic analysis of ducks, whole-genome doubling among tumor samples, and more.
Researchers analyzed germline mutations in 256 kidney cancer patients and found mutations that would have been missed, including therapeutically relevant ones.
Investigators from several centers outlined tumor features, treatment strategies, and clinical trial classifications coming from tumor-germline clinical sequencing programs.
A Memorial Sloan Kettering Cancer Center-led team has followed more than 50 patients for more than two years after receiving immunotherapy, Time reports.
The analysis of HER2 and HER3 mutation carriers emphasizes how these studies can lead both to broadening and to narrowing of the patient populations for targeted drugs.
Some industry players are accusing CMS of advancing backdoor LDT regulation by proposing to cover NGS tests with FDA approval/clearance, except in a limited setting.
The UK's Human Fertility and Embryology Authority calls for consumer genetic testing companies to warn customers that testing could uncover family secrets, according to the Guardian.
The New York Times reports that United Nations delegates have been discussing how to govern the genetic resources of the deep sea.
Researchers have transplanted edited cells into mice that appear to combat cocaine addiction, New Scientist reports.
In PNAS this week: analysis of proteolytic enzymes secreted by circulating tumor cells, phylogenetic study of Fv1 evolution, and more.