Article

Evaluating Human Mutation Databases for ‘Treatability’ Using Personalized Antisense Oligonucleotides

2022-01-06

Abstract excerpt

Genome sequencing in the clinic often allows patients to receive a molecular diagnosis. However, variants are most often evaluated for pathogenicity, neglecting potential “treatability”, and thus often yielding limited clinical benefit. Several collaborative efforts now aim to provide a therapy based upon the genetic variants, even if the drug will benefit only a single patient. Antisense oligonucleotide (ASO) the...

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Literature Corpus work: 14cdfbac-632c-5f91-9b5d-62590a3848fc
DOI: 10.1101/2022.01.04.474998

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