DANN: a deep learning approach for annotating the pathogenicity of genetic variants

@article{Quang2015DANNAD,
  title={DANN: a deep learning approach for annotating the pathogenicity of genetic variants},
  author={Daniel Quang and Yifei Chen and Xiaohui Xie},
  journal={Bioinformatics},
  year={2015},
  volume={31 5},
  pages={761-3}
}
UNLABELLED Annotating genetic variants, especially non-coding variants, for the purpose of identifying pathogenic variants remains a challenge. Combined annotation-dependent depletion (CADD) is an algorithm designed to annotate both coding and non-coding variants, and has been shown to outperform other annotation algorithms. CADD trains a linear kernel support vector machine (SVM) to differentiate evolutionarily derived, likely benign, alleles from simulated, likely deleterious, variants… CONTINUE READING
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