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mutation detection

By sequencing several individuals with unexplained pancreas and brain development problems, investigators identified a recurrent missense mutation in the CNOT1 gene.

Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.

At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.

Researchers designed a PCR-based test for pyrethroid resistance based on a cytochrome P450 allele that is common in Anopheles funestus mosquitoes from Malawi.

With retrospective and prospective analyses on women with BRCA1/2 mutations, investigators began teasing out breast cancer risk relative to reproductive history.

Genomic and transcriptomic data for almost 500 triple-negative breast cancer cases revealed four expression subtypes and suspected treatment targets.

Analyzing mutational signatures in cancer cell lines and xenografts, investigators identified mutagenic processes that do or don't remain active in vitro.

Researchers at UC Santa Cruz have found patterns in RNA sequencing data that have led to possible treatments for cancers with no actionable mutations.

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.

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Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.

St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.

St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.

In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.