… the human genome project (HGP) suggested the presence of at … deleterious mutated kinases
throughout the human kinome relevant to carcinogenesis. The aim of our study is to identify …

… gene family-specific variant effect predictor. This algorithm identified a total of 1208 deleterious
… Human genomic data was extracted from 125,748 exome sequences and 15,708 whole-…

… were mapped to the human genome using the iSAAC … genomic variant call format (gVCF)
file that includes all information on these variants. To identify significantly deleterious mutations …

… (DM) entries in the Human Gene Mutation Database (HGMD) [9]… This trend is expected, as
deleterious variants are more … [4] identified thresholds at which predictions from certain tools …

… research on these tissue-damaging effects than on the systemic … snake venoms interact with
human physiology is required to … The objective of this study was to identify the human genes …

… Wheeler Aligner, utilizing the human genome assembly (hg19) … , we identified and included
all missense mutations that were … patients carried deleterious mutations in DDR genes, which …

… We identified seven heterozygous predicted deleterious variants in FEZF2 (three frameshifts,
one recurrent missense in two independent cases, one nonsense, and one complete gene …

… to identify human genes that rarely exhibit pLOF, as a means to determine ‘essential’ human
loci (and exclude proteins at … tolerate deleterious mutation and are most essential to health. …

… /deletion (indel) variants in the human genome [11]. PolyPhen-… tools and identified RPL-associated
genes using open … into three categories: benign < 0.15; possibly damaging = …

… To standardize results among samples, we identified the number of harmful mutations per …
2009. … The influence of genomic context on mutation patterns in the human genome inferred …