Common non-coding variants, along with rarer coding alterations, appear to contribute to a developmental disease with bowel and other gastrointestinal symptoms.
Together with gene expression results from affected tissue, the findings suggest that drugs such as JAK inhibitors may be effective for the treatment of FFA.
Genome- and exome-wide association analysis on inflammatory bowel disease patients with or without thiopurine-induced myelosuppression revealed new and known risk genes.
Using data for more than a million individuals with or without insomnia, two independent research teams tracked down associated risk loci and explored their functional effects.
Researchers used a genome-wide association study to identify seven loci associated with ASD and other conditions, along with five loci linked to ASD alone.
Using UK Biobank and 23andMe data, researchers found 352 loci influencing sleep time preferences, including sites near brain- and retina-expressed genes.
Researchers saw variants contributing to both ends of the weight spectrum by analyzing thousands of thin, early-onset obese, and population control individuals.
The researchers found that low-frequency variants in TP53 had a large effect on head circumference and volume, suggesting a previously unknown role for the gene.
With ever more data in hand, providers are seeking to enhance their services, providing more detailed ancestry estimates while introducing new offerings around genetic traits and health.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
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.
