Therefore, using whole-exome and whole-genome sequencing (WES and WGS, respectively), we aimed to identify novel PAVs and protein-truncating variants (PTVs, as putative loss-of-function variants) affecting serum lipid and lipoprotein measurements, complemented with serum nuclear magnetic resonance (...
Gene intolerance to protein-altering variants in general population was assessed by using Residual Variation Intolerance Score (RVIS).38 Black, o1st percentile of intolerant genes; gray, 1–25th percentiles of intolerant genes; white, rest of the genes (25–100th percentiles). Dashed and solid ...
Briefly, for single nucleotide variants, we moved mutations uniformly at random within the same gene but matched the same nucleotide context as the observed mutation (C∗pG, CpG∗, TpC∗, G∗pA, A, C, G, T). Indels were moved within the same gene without regard for the flanking ...
Furthermore, due to the recent optimistic outcome of phase 1 clinical trials of carmustine used in combination with O6-benzylguanine, the development of O6-benzylguanine resistant hAGT variants for use in therapy to protect non-targeted cells has accrued much interest [36]. These resistant DNA-...