British and French researchers reported today that they have investigated ties between more than a dozen previously detected, low penetrance risk variants and the risk of developing breast cancer and sub-types of the disease.
After looking for associations between common CNVs and eight common diseases in more than 16,000 affected individuals, members of the Wellcome Trust Case Control Consortium concluded that these CNVs aren't major players in these diseases.
A co-author of the study said that "the presence or absence of the biomarker can now be used as a diagnostic test to identify which patients will benefit from this drug," and added that their approach can be used to screen the efficacy of any drug for any disease.
Sequenom also said that it amended its license with Isis Innovation for IP underlying its SEQureDx Down syndrome test, which the firm continues to develop following an investigation into mishandled R&D test data and results.
The study is noteworthy because the researchers were able to identify all four bases of DNA in a heteropolymeric background of DNA immobilized inside the pore, according to senior author Hagan Bayley, a professor of chemistry at Oxford.
The research, published online Sunday in Nature Nanotechnology, is the first to show that scientists can detect unlabeled single DNA bases "to a confidence level … appropriate for a highly competitive commercial sequencing system," Oxford Nanopore's CEO said.