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Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.

Ogün AdebaliAlexander O ReznikDaniel S OryIgor B Zhulin
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
The results show that a thorough evolutionary analysis followed by identification of orthologs improves the accuracy in predicting disease-causing missense mutations. We anticipate that this approach will be used as a reference in the interpretation of variants in other genetic diseases as well.Genet Med 18 10, 1029-1036.
Keyphrases
  • genome wide
  • copy number
  • intellectual disability
  • transcription factor