By sequencing several individuals with unexplained pancreas and brain development problems, investigators identified a recurrent missense mutation in the CNOT1 gene.
The company believes that blood-based exome sequencing can increase the applicability of its Signatera assays and could serve as a reflex to interrogate detected recurrences.
Researchers identified characteristic alterations, immune features, and interactions in hundreds of adenocarcinoma and squamous cell carcinomas from China.
Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.
The researchers plan to analyze clinical records and genetic data from whole-exome sequencing for more than 3,000 patients using DNAnexus' Apollo platform.
The genetic disease risk test, which covers 59 genes endorsed by ACMG, is offered through the Helix marketplace and includes genetic counseling services.
Common non-coding variants, along with rarer coding alterations, appear to contribute to a developmental disease with bowel and other gastrointestinal symptoms.
Patients within the project and their physicians will be able to access Genome Medical's genetic specialists to address concerns and incorporate genetic information into care.
At the AACR meeting, Elaine Mardis detailed efforts at Nationwide Children's Hospital to sequence patients' DNA and RNA to help inform therapeutic decisions.
A genomic and transcriptomic analysis of an aggressive form of leukemia suggests that subtypes differ in their prognosis and may respond to different therapies.
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.
