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.
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 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.
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.
