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mutation detection

Through a genome-wide association study, meta-analysis, and systems analysis, researchers saw enhanced common variant distribution in mutation-intolerant genes.

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.

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The Wall Street Journal looks into FamilyTreeDNA's handling of genetic genealogy searches by law enforcement.

In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.

MIT's Technology Review reports that researchers hope to develop a CRISPR-based pain therapy.

In Science this week: atlas of malaria parasites' gene expression across their life cycles, and more.