Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.
Journal of medical genetics(2023)
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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