Article

Empirical prediction of variant-associated cryptic-donors with 87% sensitivity and 95% specificity

2021-07-19

Abstract excerpt

Predicting which cryptic-donors may be activated by a genetic variant is notoriously difficult. Through analysis of 5,145 cryptic-donors activated by 4,811 variants (versus 86,963 decoy-donors not used; any GT or GC), we define an empirical method predicting cryptic-donor activation with 87% sensitivity and 95% specificity. Strength (according to four algorithms) and proximity to the authentic-donor appear importa...

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Literature Corpus work: bac133f3-1902-5edc-9575-5b13dfdc6719
DOI: 10.1101/2021.07.18.452855

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