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paRDal: Bioinformatics Framework for a Parallel RNA and DNA NGS Analysis in Hereditary Cancer Diagnostics

2026-07-09

Abstract excerpt

<title>Abstract</title> <p> Germline next-generation sequencing (NGS) is the gold standard for hereditary cancer diagnostics. However, clinical utility is limited by variants of uncertain significance (VUS), which may disrupt mRNA processing; consequences invisible to DNA NGS alone but identifiable by parallel RNA NGS. Here, we present <italic>paRDal</italic> (parallel RNA/DNA analytical workflow), a container...

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Literature Corpus work
31a1fbe9-6958-5094-b1a2-3e136ba28c40
DOI
10.21203/rs.3.rs-10043502/v1
Open publication

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paRDal: Bioinformatics Framework for a Parallel RNA and DNA NGS Analysis in Hereditary Cancer DiagnosticsDOI 10.21203/rs.3.rs-10043502/v1
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