mutation detection

A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.

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.

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Consulting company McKinsey says diagnostics companies will have to combine genomic data analysis, electronic medical records, effective reimbursement strategies, and regulatory compliance in order to win.

A new report has found that researchers in Africa are still heavily dependent on funding from organizations in the US, Europe, and China, Nature News says.

An article in The Atlantic argues that the progress being made in science isn't keeping pace with the money and time being spent on research.

In Science this week: a CRISPR screen identifies sideroflexin 1 as a requisite component of one-carbon metabolism, and more.