Close Menu

mutation detection

With genomic and proteomic profiles for more than 100 colon cancer cases, researchers identified drug targets, treatment resistance insights, potential cancer drivers, and more.

The TATTON study found a combination therapy could treat some EGFR-positive lung cancer patients who developed MET-based resistance, but the best way to gauge MET status isn't yet clear.

By sequencing several individuals with unexplained pancreas and brain development problems, investigators identified a recurrent missense mutation in the CNOT1 gene.

Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.

At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.

Researchers designed a PCR-based test for pyrethroid resistance based on a cytochrome P450 allele that is common in Anopheles funestus mosquitoes from Malawi.

With retrospective and prospective analyses on women with BRCA1/2 mutations, investigators began teasing out breast cancer risk relative to reproductive history.

Genomic and transcriptomic data for almost 500 triple-negative breast cancer cases revealed four expression subtypes and suspected treatment targets.

Analyzing mutational signatures in cancer cell lines and xenografts, investigators identified mutagenic processes that do or don't remain active in vitro.

Researchers at UC Santa Cruz have found patterns in RNA sequencing data that have led to possible treatments for cancers with no actionable mutations.

Pages

A letter criticizing actions by the US government and research institutions toward Chinese and Chinese-American scientists has garnered more than a hundred signatories.

NPR reports that researchers in New York are investigating whether it is possible to edit the genomes of human sperm.

In an opinion piece at the Nation, Sarah Lawrence College's Laura Hercher argues that everyone should be able to access prenatal genetic testing.

In Nature this week: ancient DNA uncovers presence of Mediterranean migrants at a Himalayan lake, and more.