Researchers at Columbia University and CHOP believe they can shorten time to diagnosis and improve yield by extracting phenotypic data from EHRs for genomic labs.
A ClinGen panel reports that only one gene linked to Brugada syndrome out of 21 tested has enough evidence supporting its inclusion in clinical genetic tests.
This week's news includes Thermo Fischer Scientific, Agilent Technologies, MiRxes, Becton Dickinson, Heart to Heart International National Assoc of Free & Charitable Clinics, MyHeritage, U of Alabama Birmingham, Cibus, and T2 Biosystems.
Collaborators said that the test is accurate and reliable for the rapid detection of the most common gram-positive bacteria responsible for bloodstream infections.
Using exome sequences from individuals with developmental delays, heart defects, and limb abnormalities, investigators identified four TRAF7 mutations.
It is the first of three ePlex molecular multiplex panels for the diagnosis and management of bloodstream infections that can lead to sepsis.
Patients whose tumors had methylated MGMT promoters were more likely to survive than those that did not after combination treatment with radiotherapy and temozolomide.
Results support the ability of the test to not only identify hormonal therapy non-responders, but to predict their improved survival on chemotherapy.
A new analysis of immune cells in breast carcinomas and matched blood, breast, and lymph tissue uncovered phenotypic expansions in tumor immune cell populations.
The funding will help support the whole-genome and RNA sequencing of Alzheimer's disease patients to advance biomarker development.