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From Genomic Diagnosis to Personalized RNA Medicine: Advances in Next-Generation Sequencing and N-of-1 Antisense Oligonucleotide Therapies for Rare Genetic Diseases

2025-11-17

Abstract excerpt

Next-generation sequencing (NGS) and antisense oligonucleotide (ASO) technologies are converging to transform the diagnosis and treatment of rare monogenic disorders. NGS enables comprehensive, single-test molecular diagnoses through targeted panels, whole-exome (WES), and whole-genome sequencing (WGS), which together reveal pathogenic variants across coding, intronic, and structural domains. Integration with tran...

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Literature Corpus work: 3a37e16d-9622-5d8f-97bb-1c1c1f03e656
DOI: 10.20944/preprints202511.1240.v1

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