Close Menu

mutation detection

With genealogical data for 3.4 million individuals from Quebec, investigators traced a rare heart and digestive disease back to two 17th century founder families.

DNA sequence data from 416 neuroblastoma cases led to informative alterations affecting genes from telomere maintenance, RAS, or TP53 pathways.

Using DNA sequence, gene expression, methylation, and drug response data, researchers saw alterations linked to ovarian cancer subtypes and drug responses.

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.

Pages

The Wall Street Journal looks into FamilyTreeDNA's handling of genetic genealogy searches by law enforcement.

In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.

MIT's Technology Review reports that researchers hope to develop a CRISPR-based pain therapy.

In Science this week: atlas of malaria parasites' gene expression across their life cycles, and more.