Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Differential relationship of DNA replication timing to different forms of human mutation and variation.
Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis.
Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
