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Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.

Xiaolei ZhangPantazis I TheotokisNicholas Linull nullCaroline F WrightKaitlin E SamochaNicola WhiffinJames S Ware
Published in: Genome medicine (2024)
Grouping variants of comparable functional impacts is effective in evaluating their genetic constraint. HMC is a novel and accurate predictor of missense consequence for improved variant interpretation.
Keyphrases
  • copy number
  • amino acid
  • genome wide
  • intellectual disability
  • small molecule
  • dna methylation
  • high throughput
  • high resolution
  • protein protein
  • single molecule
  • autism spectrum disorder
  • gene expression
  • single cell