A general framework for estimating the relative pathogenicity of human genetic variants

@inproceedings{Kircher2014AGF,
  title={A general framework for estimating the relative pathogenicity of human genetic variants},
  author={Martin Kircher and Daniela M. Witten and Preti Jain and Brian J. O'Roak and Gregory M. Cooper and Jay Shendure},
  booktitle={Nature Genetics},
  year={2014}
}
Current methods for annotating and interpreting human genetic variation tend to exploit a single information type (for example, conservation) and/or are restricted in scope (for example, to missense changes). Here we describe Combined Annotation–Dependent Depletion (CADD), a method for objectively integrating many diverse annotations into a single measure (C score) for each variant. We implement CADD as a support vector machine trained to differentiate 14.7 million high-frequency human-derived… CONTINUE READING
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