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Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study
2025-02-12
genetic and genomic medicine
Title + abstract only
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PurposeTo estimate the proportion of molecular genetic diagnoses in a real-world, phenotypically heterogeneous patient cohort that are amenable to antisense oligonucleotide (ASO) treatment. MethodsWe retrospectively applied the N=1 Collaboratives VARIANT (Variant Assessments towards Eligibility for Antisense Oligonucleotide Treatment) guidelines to all diagnostic variants found by clinical genome-wide sequencing at a single pediatric hospital in 532 patients over a 6-year period. Variants were ...
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