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mutation detection

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.

Using exome or transcriptome data from more than 400 metastatic, castration-resistant prostate cancer cases, researchers identified survival-related alterations in the RB1 gene.

Mismatch repair-deficient tumors with many insertion-deletion mutations and enhanced microsatellite instability responded better to anti-PD-1 immunotherapy.

Whole-genome sequencing on 62 families revealed rare reproduction- and metabolism-related variants in the androgen production pathway gene DENND1A.

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The Wall Street Journal looks into FamilyTreeDNA's handling of genetic genealogy searches by law enforcement.

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.

MIT's Technology Review reports that researchers hope to develop a CRISPR-based pain therapy.

In Science this week: atlas of malaria parasites' gene expression across their life cycles, and more.