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mutation detection

With sequence data for more than 118,000 tumors profiled at Foundation Medicine, investigators tracked PDL1 amplification prevalence and possible treatment implications.

New tumor profiling papers stemming from prior clinical trials led to informative mutations in early-stage, ER+/HER2- breast cancer and lung squamous cell carcinoma.

With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.

Exome sequencing on tumors from metastatic, castration-resistant prostate cancer cases responding to immunotherapy led to homologous recombination defects.

New trial data presented at ASCO highlights the utility of checkpoint inhibitors, alone or with chemotherapy, across PD-L1 expression groups.

A phase 1 study from MD Anderson saw a modest increase in overall and progression-free survival in cancer patients molecularly matched to treatment.

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.

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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.