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NSIGHT2 researchers surveyed the parents and doctors of sick babies to see how useful they found positive and negative findings from genome sequencing tests.
The companies aim to develop technologies for interpreting cancer genome data, with a focus on linking genetic profiles with treatment responses.
This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.
Northern California healthcare system NorthBay Healthcare will evaluate the platform's ability to improve the routine use of genetic testing.
In a survey conducted by an association working group, 40 percent of respondents said they are already offering TMB, with most others planning to do the same within the year.
Invitae is providing the testing services as part of the 12-month pilot, while patients will have the option to share their results with researchers though LunaDNA.
The number of technologies to be assessed is vast, and ranges from liquid biopsies and molecular imaging to immunohistochemistry and RNA-seq.
The researchers said the test performed well in distinguishing patients with or without complications and proved itself better than frequently used clinical variables.
A European study, published today in NEJM, used a POC, PCR-based system to perform CYP2C19 genotyping to guide platelet inhibitor therapy.
Since 2016, the VHA has routinely profiled molecular features in advanced cancers from vets in its care, even in rural locales, though challenges remain.