mutation detection

Clustered mutation signatures in more than 1,000 tumors led to a process that appears to contribute to the development of some cancer driver mutations.

By sequencing the exomes of 25 sudden unexpected death syndrome cases from Thailand, investigators detected candidate mutations in 18 individuals.

Two independent research teams published findings for melanoma patients treated with vaccines developed against neo-antigens in their tumors that sequencing uncovered.

An international research team profiled more than 7,500 tumor genomes, including small-bowel adenocarcinoma, colorectal cancer, and gastric cancer genomes.

KDSR mutations prevent skin from sealing in moisture and indicate that stimulating other pathways might help patients.

Researchers used exome and targeted sequencing to find alterations affecting KRAS and other cancer driver genes in a subset of deep infiltrating endometriosis samples.

Investigators identified new recurrently mutated genes and overlap with other histological endometrial cancer subtypes by profiling more than a dozen CCEC cases.

Rare mutations in the ANXA11 gene showed up in cases with familial and sporadic forms of amyotrophic lateral sclerosis.