The project has identified carrier variants in 109 infants so far — a total of 232 variants in 166 genes — according to a presentation at ASHG today.
Researchers have been able to detect and characterize genomic alterations in DNA floating in the aqueous humor of the eye, opening the door to new prognostic studies.
University of Exeter researchers used UK Biobank data to examine the interaction of genetic risk factors for obesity, physical activity, and sleep.
The study aims to explore the "unique benefits and challenges" or incorporating genomic information into the routine care of active duty Air Force members.
The study being conducted under the Genomes2People umbrella will explore how best to introduce genetic information into the routine care of active duty service members.
Johns Hopkins' Evgeny Izumchenko is also developing a blood test for the non-invasive detection and followup of early tumors.
Researchers hope that a Faroese reference genome will help drive precision medicine and shed light on population-specific disease variants.
A University of Graz team used a protein interaction-based proteogenomic approach to study the effect of mutations on the eight components of the BBSome complex.
Funded by Biogen, The University of Colorado, and The Global Down Syndrome Foundation, the project will analyze genetics and other biology in 1,000 individuals with the disorder.
By sequencing hundreds of genes implicated in various studies, researchers found OCD-linked variants in four genes with apparent ties to brain function.
The one-year partnership will focus on identifying patients with abnormal pain conditions and validating the genetic findings as potential targets for drugs.
Called GA4GH Connect, it calls on the alliance's 500-plus members to develop new data sharing standards for use in major international genomic data initiatives.
Two studies led by Cleveland Clinic researchers found that a variant in a gene involved in androgen synthesis can help predict response to different prostate cancer therapies.
A Johns Hopkins team reported its finding in JAMA Cardiology, backed by SNP array data from 21,870 participants culled from several large cardiovascular studies.
The trial will assess a novel treatment combination in genetically defined high-risk myeloma patients.
Early users' experience engaging with the study protocol via the newly launched JoinAllofUs.org reveals areas that need refinement ahead of a full launch next year.
The researchers searched for schizophrenia risk loci using cohorts of both Chinese and European ancestry.
The university is marshaling the expertise across all its schools in studying myriad factors that might contribute to opioid response, addiction, and abuse.
The firm has used its proximity ligation method to interpret metagenomic sequence data from a human fecal sample, unraveling new and known genomes in the mix.
The perturbed genes will be identified by barcodes associated with single guide RNAs, and read using an in situ sequencing method.
The New York Times profiles 23andMe's Anne Wojcicki and describes how she bounced back from a bad year.
Fotis Kafatos, the founding president of the European Research Council, has died, according to the Associated Press.
In PLOS this week: genomic analysis of honeybee disease, microRNA profiles of people with lupus nephritis, and more.
The Verge's Angela Chen tried out a gene test for fitness advice, but didn't learn much new information.