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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

S CannonM WilliamsA C GunningCaroline Fiona Wright
Published in: BMC medical genomics (2023)
Algorithms designed for predicting the pathogenicity of in-frame indels perform well enough to aid clinical variant classification in a similar manner to missense prediction tools.
Keyphrases
  • machine learning
  • deep learning
  • biofilm formation
  • molecular docking
  • intellectual disability
  • pseudomonas aeruginosa
  • autism spectrum disorder
  • cystic fibrosis
  • staphylococcus aureus
  • molecular dynamics simulations