Close Menu

mutation detection

Investigators plan to profile clonal hematopoiesis in a broad range of patients to get a clearer look at its interactions with aging and disease.

The company, founded earlier this year, is developing a technology for the detection of low-frequency genetic mutations for diagnostic applications.

A population of progenitor cells identified in mouse models of the Sonic Hedgehog medulloblastoma subtype led to a gene that is highly expressed in patients with poor outcomes.

Investigators saw signs that risky TP53 missense mutations may interfere with wild type copies of the tumor suppressor gene in acute myeloid leukemia and other myeloid cancers.

With exome sequences for tens of thousands of Finns, researchers identified deleterious variants linked to dozens of clinically relevant quantitative traits.

Individuals with Alzheimer's disease are enriched for somatic mutations in brain tissue that affect tau-related pathways, as compared to unaffected individuals.

By analyzing thousands of cancer genomes, investigators identified hotspots for passenger mutations  at DNA hairpin sites that are a preferred substrate for APOBEC, a cytidine deaminase.

A New York Genome Consortium-led team plans retrospective and prospective analyses on very rare cancers in the hopes of improving treatment options available for patients.

A small but significant proportion of autism spectrum disorder cases — particularly those occurring in females — appeared to involve biallelic loss-of function or missense mutations.

With exome sequences from more than 600 metastatic breast tumors, researchers identified genomic alterations related to tumor progression, treatment response, and patient outcomes.

Pages

In PLOS this week: preconception carrier screening program results, comparative genomics-based analysis of Elizabethkingia meningoseptica, and more.

Canadian regulators are beginning to share information from new drug studies, Undark reports.

In a column at the Dallas Morning News, the Stanley Medical Research Institute's E. Fuller Torrey says the Human Genome Project hasn't delivered on promised results.

Researchers explore a possible genetic cause for some cases of sudden infant death syndrome, KOMO News reports.