Session # 679W

A model averaging approach for improved in silico variant prediction

  • A variety of in silico scores are currently utilized in missense variant assessment as evidence of pathogenicity. Information from these scores is typically selected manually or using stepwise regression procedures.
  • We developed a gene-specific model averaging approach that improved model robustness and prediction performance in assigning benign and pathogenic evidence to missense variants when assessing a collection of in silico scores.
  • Our model averaging method also provides a gene-specific relative importance index for each in silico score, which may be a valuable resource for variant interpretation.

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