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Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration.

Michelle GruninSarah de JongEllen L PalmerBowen JinDavid RinkerChristopher MothAnthony CapraJonathan L HainesWilliam S BushAnneke I den Hollandernull null
Published in: medRxiv : the preprint server for health sciences (2023)
identification of variants that impact gene expression allow for classification for previously classified as VUS. Further investigation is needed to validate the models for additional variants and to be applied to all AMD-associated genes.
Keyphrases
  • age related macular degeneration
  • copy number
  • gene expression
  • dna methylation
  • genome wide
  • machine learning
  • bioinformatics analysis
  • deep learning
  • genome wide identification