Diagnosis sequencing is key to improving hospital ratings and rankings by industry groups like U.S. News & World Report, Leapfrog Group and Vizient. Manual processes for identifying high value cases, ...

We determined the whole-genome sequences of 150,119 individuals from the UK Biobank and identified more than 600 million sequence variants. The comprehensive data identify novel associations with ...

MIT researchers have built an AI language model that learns the internal coding patterns of a yeast species widely used to manufacture protein-based drugs, then rewrites gene sequences to push protein ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...