Close Menu

mutation detection

Researchers identified somatic KRAS mutations in affected tissue from more than 60 percent of people with sporadic arteriovenous malformations of the brain.

Homologous recombination deficiency predicted with the HRDetect tool corresponded to favorable breast cancer outcomes after platinum-based chemotherapy.

The Danish informatics firm is exploring analytical tools for its InWeb_InBioMap network, which currently contains more than 700,000 protein-protein interactions. 

Research teams documented mosaic mutations during brain development, as well as rising somatic mutations in aging brains or brains affected by neurodegenerative disease.

In a pilot study of 92 individuals with familial or suspected genetic chronic kidney disease, researchers successfully diagnosed 24 percent of cases with exome sequencing.

Investigators have established hundreds of patient-derived xenografts, cell lines, and tumor samples, which appear to represent a wide range of melanoma molecular subtypes.

By sequencing Vibrio cholerae isolates from Africa and Latin America, investigators got a look at the lineages leading to outbreaks over several decades.

An analysis of new and available liver cancer genomes led to 10 mutational signatures and six structural rearrangement signatures in hepatocellular carcinoma.

Alterations affecting the antigen presentation-related gene B2M appeared to be over-represented in melanomas with checkpoint blockade non-response or resistance.

Investigators saw muted negative selection against mutations in genomic data for more than 7,600 tumors, while mining positive selection patterns for cancer driver clues.

Pages

The American Prospect writes that the pilot program to test the DNA of migrants could lead to more family separations.

An international commission is to develop a report on how researchers, clinicians, and regulators should evaluate the clinical applications of human germline genome editing.

The US Department of Agriculture presents a new blueprint for animal genomic research.

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.