Article

Variant pathogenic prediction models VSRFM and VSRFM-s, the importance of splicing and allele frequency

2018-10-03

Abstract excerpt

<h4>ABSTRACT</h4> Currently, there are available several tools to predict the effect of variants, with the aim of classify variants in neutral or pathogenic. In this study, we propose a new model trained over ensemble scores with two particularities, first we consider minor frequency allele from gnomAD and second, we split variants based on their splicing for training each specific model. Variants Stacked Random...

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Literature Corpus work: 42b15533-5620-5bc4-bf18-904e06a37553
DOI: 10.1101/430975

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