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