Close Menu

mutation detection

Researchers searched exome sequences of more than 100,000 individuals for associations to more than a dozen quantitative human traits and 10 diseases.

A targeted sequencing analysis of 42 pancreatic ductal adenocarcinoma has uncovered prognostically-relevant germline mutations in 29 percent of sporadic cases.

An analysis revealed an uptick in cancer in frontotemporal lobar degeneration-affected families with tau mutations, pointing to a broader tau protein role.

Researchers used CRISPR-Cas9 screening assays in mouse and human cells to track down point mutations in the PARP1 gene that boost resistance to PARP inhibitor drugs.

An exome- and expression-based analysis of 304 DLBCL cases led to five molecular subtypes, offering insights into disease pathogenesis and treatment outcomes.

A Phase III randomized trial uncovered enhanced carboplatin response in advanced triple-negative breast cancer patients with germline mutations affecting BRCA1/2.

The company said it will seek FDA approval for the assay, an expanded version of FoundationACT, as a CDx for targeted therapies and as a tumor mutation profiling assay.

Data from almost 19,500 individuals did not show clear ties between a heterozygous mutation in the HBB hemoglobin beta gene and ischemic stroke risk.

Presentations largely reflected negatively on the utility of PD-L1 for stratifying response, but pivotal new data on tumor mutational burden as assessed by Foundation Medicine's genomic sequencing panel.

The automated tool AMELIE is designed to prioritize candidate genes found in individuals with Mendelian disease, aiding in exome analyses and diagnoses.

Pages

A man has confessed to the rape and murder of developmental biologist Suzanne Eaton, according to the New York Times.

The Irish Times reports that US lawmakers and law enforcement agencies are concerned about ties between the US and Chinese genomics firms.

Parents of children with spinal muscular atrophy tell the Washington Post they are pushing to get insurance coverage of Novartis's Zolgensma.

In PNAS this week: gene mutations in individuals with syndromic craniosynostosis, putative colorectal cancer drivers, and more.