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mutation detection

Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.

Researchers saw frequent somatic mutations in esophageal tissue from nine individuals, including mutations under positive selection in 14 oncogenes.

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.

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The first reported coronavirus cases in Europe and the US might not be related to the subsequent outbreaks in those areas, according to the New York Times.

According to NPR, there's a growing shortage of machines to run SARS-CoV-2 tests.

The Wall Street Journal and Kaiser Health News report that antibody testing for SARS-CoV-2 has led to further confusion.

In Nature this week: the largest known collection of human genetic variants, and more.