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mutation detection

Loss-of-function mutations in PADI3, which was previously linked to uncombable hair syndrome, appear to be involved in central centrifugal cicatricial alopecia.

With sequence data for 551 esophageal adenocarcinomas, researchers uncovered potential prognostic alterations and mutations that may sensitize tumors to treatment.

Researchers traced genomic, epigenomic, and expression features in lung carcinoma in situ cases that regressed or progressed to invasive lung squamous cell carcinomas.

A Chinese research team examined why cancer cell populations that amass deleterious mutations do not undergo population extinction.

A new analysis suggests that some mutations that seem to occur in tumors might actually stem from infiltrating blood cells affected by myeloproliferative neoplasms.

DNA sequence data from hundreds of individuals suggest that age, smoking, and alcohol use coincide with the expansion of clones containing NOTCH1 and PPM1D mutations.

A new analysis found kidney disease-related pathogenic or likely pathogenic variants in exomes for roughly 9 percent of individuals with chronic kidney disease.

Silicon Valley Startup Jungla has a 10-year vision of its founders to improve large-scale correlation of mutations and disease.

Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability.

Researchers identified germline and somatic changes that marked low-grade and high-grade cases in adults and children with a condition called neurofibromatosis 1.

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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.