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Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.

Ozlem Senol-CosarRyan J SchmidtEmily QianDerick HoskinsonHeather Mason-SuaresBirgit H FunkeMatthew S Lebo
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
This framework represents an approach for classifying risk alleles and can serve as a foundation to catalyze community efforts for refinement.
Keyphrases
  • healthcare
  • deep learning
  • gene expression
  • genome wide
  • drug induced