Assessing performance of pathogenicity predictors using clinically relevant variant datasets.

Adam C GunningVerity FryerJames FashamAndrew H CrosbySian EllardEmma L BapleCaroline Fiona Wright

Published in: Journal of medical genetics (2020)

Our results support the adoption of meta-predictors over traditional in silico tools, but do not support a consensus-based approach as in current practice.

Keyphrases

primary care
healthcare
molecular docking
electronic health record
rna seq
clinical practice
quality improvement
cystic fibrosis
staphylococcus aureus
single cell