Researchers found that functional assays could improve the classification of cystic fibrosis-related missense variants with variable disease expressivity.
Labcyte and the University of Helsinki's Institute for Molecular Medicine Finland have expanded their partnership to include multiple new applications.
The deal provides Precision for Medicine with a proprietary PCR-based technology that amplifies and detects euchromatic DNA expressed exclusively by cell types of interest.
The assay combines high-throughput drug screening of live, patient-derived tumor cells with DNA sequencing and data analysis to match patients with drug therapies.
A Brown University-led team demonstrated the utility of its "massively parallel splicing assay," or MaPSy, assay by profiling splice effects for thousands of mutations.
The publisher of the Science family of journals will allow some authors to place peer-reviewed versions of their papers into publicly accessible repositories.
