Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome

Conclusion
Our data show that CAPLRseq is an automatable and adaptable workflow for effective transcriptome-based identification of disease variants in a clinical diagnostic setting.

Source: Journal of Medical Genetics - July 21, 2023 Category: Genetics & Stem Cells Authors: Schwenk, V., Leal Silva, R. M., Scharf, F., Knaust, K., Wendlandt, M., Häusser, T., Pickl, J. M. A., Steinke-Lange, V., Laner, A., Morak, M., Holinski-Feder, E., Wolf, D. A. Tags: Open access Cancer genetics Source Type: research