Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Elucidating the functional consequence of molecular defects underlying genetic diseases enables appropriate design of therapeutic options. Treatment of cystic fibrosis (CF) is an exemplar of this paradigm as the development of CFTR modulator therapies has allowed for targeted and effective treatment...

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Bibliographic Details
Main Authors: Anya T Joynt, Taylor A Evans, Matthew J Pellicore, Emily F Davis-Marcisak, Melis A Aksit, Alice C Eastman, Shivani U Patel, Kathleen C Paul, Derek L Osorio, Alyssa D Bowling, Calvin U Cotton, Karen S Raraigh, Natalie E West, Christian A Merlo, Garry R Cutting, Neeraj Sharma
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-10-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1009100

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https://doi.org/10.1371/journal.pgen.1009100

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