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mutation detection

Researchers at Memorial Sloan Kettering Cancer Center identified clinically actionable germline mutations in 8.5 percent of about 2,700 unselected lung cancer patients.

Members of the Beat AML consortium uncovered relationships between somatic mutations, gene expression profiles, and sensitivity to more than 100 drugs.

Researchers found relevant non-coding mutations in colorectal cancer cell lines by systematically profiling chromosome interactions at promoter fragments.

Researchers found that the diverse features in mixed phenotype acute leukemia may stem from early blood progenitor mutations.

With targeted gene sequencing data from a large set of archived tumor samples, researchers identified somatic mutations coinciding with better or worse overall survival.

The transcriptomes of recessive dystrophic epidermolysis bullosa squamous cell carcinoma also suggested a role for inflammation in disease development.

Researchers looked at the prevalence and effects of whole-genome duplication events across cancers using targeted sequenced data for almost 10,000 advanced cases.

Array-based copy number analysis of primary intrahepatic cholangiocarcinomas and matched lymph node metastases revealed a tumor cluster with ties to survival.

New genetic studies are providing insights into the molecular changes that occur as benign moles transition to melanoma and spread to other parts of the body by metastasis.

Using exome sequences for 6,753 parent-child trios, researchers saw genes with increased de novo variant burdens in neurodevelopmental disorders with epilepsy.

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The former commissioner of the FDA has returned to the venture capital firm New Enterprise Associates as a special partner on the healthcare investment team.

Astronauts have edited yeast genes on the International Space Station in an experiment designed to show how cells repair themselves in space.

Emory University has found that two of its researchers failed to divulge they had received funds from China, according to the Atlanta Journal-Constitution.

In Science this week: influence of the nuclear genome on human mitochondrial DNA, and more.