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

Vincent Schwenk,Rafaela Magalhaes Leal Silva,Florentine Scharf,Katharina Knaust,Martin Wendlandt,Tanja Häusser,Julia M A Pickl,Verena Steinke-Lange,Andreas Laner,Monika Morak,Elke Holinski-Feder,Dieter A Wolf

Journal of medical genetics（2023）

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摘要

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

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关键词

Gastrointestinal Diseases,Gene Expression Profiling,Nanopore Sequencing,RNA-Seq

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