mutation detection

Investigators identified mutation, expression, and methylation differences in colorectal polyps from individuals with or without colorectal cancer.

Using exome sequence and questionnaire data, researchers saw links between motor skills and likely gene disruptive or missense de novo mutations.

Using sequencing from 262 drug-resistant Plasmodium falciparum representatives, researchers characterized the malaria parasite resistome.

A proportion of pediatric ALL patients appear to have germline TP53 mutations associated with later diagnoses, poorer outcomes, and increased secondary cancer risk.

Teams studying kidney and skin cancers independently implicated SWI/SNF chromatin remodeling mutations in checkpoint blockade immunotherapy response.

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.

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A phylogenetic analysis indicates two venomous Australian spiders are more closely related than thought, the International Business Times reports.

Technology Review reports that 2017 was the year of consumer genetic testing and that it could spur new analysis companies.

In Science this week: CRISPR-based approach for recording cellular events, and more.

A new company says it will analyze customers' genes to find them a suitable date, though Smithsonian magazine says the science behind it might be shaky.