Article

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications

2026-01-29

Abstract excerpt

<title>Abstract</title> <p>Background Pediatric neuromuscular diseases are genetically and clinically heterogeneous. A substantial proportion remain without a definitive genetic diagnosis despite available clinical molecular testing. RNA-sequencing (RNA-seq) can be used to complement genome or exome sequencing to elucidate or to identify the functional impact of variants of uncertain significance, but when manua...

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Literature Corpus work: f49dd1b0-1933-5ddc-a1fc-1fc8b00a92c9
DOI: 10.21203/rs.3.rs-8622051/v1

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