Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

We developed a variant-annotation method that combines sequence-based machine-learning classification with a context-dependent algorithm for selecting splice variants. Our approach is distinctive in that it compares the splice potential of a sequence bearing a variant with the splice potential of th...

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Publicat a:Am J Hum Genet
Autors principals: Lee, Melissa, Roos, Patrick, Sharma, Neeraj, Atalar, Melis, Evans, Taylor A., Pellicore, Matthew J., Davis, Emily, Lam, Anh-Thu N., Stanley, Susan E., Khalil, Sara E., Solomon, George M., Walker, Doug, Raraigh, Karen S., Vecchio-Pagan, Briana, Armanios, Mary, Cutting, Garry R.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5420354/
https://ncbi.nlm.nih.gov/pubmed/28475858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.04.001
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