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mutation detection

Although normal tissues with somatic mutations did not necessarily progress to cancer, researchers saw a jump in mutational burden in samples associated with cancer or cirrhosis.

Tumor genomes from almost 2,400 patients with metastatic cancer revealed a range of somatic alterations, providing a foundation for clinical sequencing efforts.

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.

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Nature News writes that viral genomic surveillance in the US faces systemic issues.

President Joe Biden is seeking an increase in federal spending, including higher budgets for the National Institutes of Health and Centers for Disease Control and Prevention.

A small, early-stage trial of a combination therapy for brain cancer reports favorable responses in two patients, according to the Guardian.

In PLOS this week: sex-stratified genome-wide association study of chronic pain, sequencing data from Indigenous Mexican groups, and more.