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.
A new study finds that the majority of patients at a Tijuana clinic received a diagnosis after first-line genome sequencing, the San Diego Union-Tribune reports.
In Genome Biology this week: post-transcriptional modification-based stratification of glioblastoma, single-cell analysis of gene expression and methylation in human iPSCs, and more.
