News on NGS technologies, RNA-seq, clinical sequencing, & sample prep in genetics, genomics, and molecular diagnostics.
The method, presented at the European Congress of Clinical Microbiology and Infectious Diseases, may provide results in hours rather than a week or more.
A team compared expression in duodenum samples from active celiac cases, cases in remission, and unaffected controls, identifying active disease-related expression shifts.
The group published results showing its method can faithfully recapitulate genome-wide measures of DNA repair deficiency using much smaller sequencing panels.
The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.
By sequencing several individuals with unexplained pancreas and brain development problems, investigators identified a recurrent missense mutation in the CNOT1 gene.
