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A Happy Sequencing Ending

By having their genomes sequenced, the health problems of a set of fraternal twins living near San Diego was solved, reports NBC 7. As toddlers, the twins were diagnosed first with cerebral palsy, and then with dopa-responsive dystonia. But then in 2009, both twins had additional health issues and that led to their parents to seek DNA testing for the family, NBC adds. The test found that in addition to having dopa-responsive dystonia, the twins also had a serotonin deficiency. With treatment, the twins are doing fine. Scripps Translational Research Institute's Eric Topol says one concern was that the source of the illness would be found, but that there would be no treatment. "So in the case of the Beerys', it was perfect," he tells NBC 7. "They found the mutation, found the right drug, found the right dose of the drug. It might not always have such a happy ending."

The Scan

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.

EHR Quality Improvement Study Detects Demographic-Related Deficiencies in Cancer Family History Data

In a retrospective analysis in JAMA Network Open, researchers find that sex, ethnicity, language, and other features coincide with the quality of cancer family history information in a patient's record.

Inflammatory Bowel Disease Linked to Gut Microbiome Community Structure Gradient in Meta-Analysis

Bringing together data from prior studies, researchers in Genome Biology track down microbial taxa and a population structure gradient with ties to ulcerative colitis or Crohn's disease.

Ancient Greek Army Ancestry Highlights Mercenary Role in Historical Migrations

By profiling genomic patterns in 5th century samples from in and around Himera, researchers saw diverse ancestry in Greek army representatives in the region, as they report in PNAS.