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mutation detection

Researchers at MD Anderson Cancer Center found that somatic copy number alterations are more frequent in normal tissue surrounding tumor than in blood.

An analysis of placental, parental, and cord blood samples indicated that an uptick in chromosomal instability in cleavage-stage in vitro fertilization embryos does not persist after birth.

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.

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A genetic alteration appears to increase heart failure risk among people of African descent, according to the Washington Post.

Gene editing could be an issue competitive sports need to address soon, four researchers from Arizona State University write at Slate.

In his look back at the past decade, BuzzFeed News' Peter Aldhous writes that direct-to-consumer genetic testing has led to "Facebook for genes."

In Nature this week: genetic "clock" that can predict the lifespans of vertebrates, new assembler called wtdbg2, and more.