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Benchmarking RNA-seq Tools for Real-World Diagnostic Applications
2026-01-28
genetic and genomic medicine
Title + abstract only
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BackgroundPediatric 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 manually analyzed is limited to candidate DNA variants or phenotype-driven gene lists. Open-source computational tools...
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