… 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 …

… the human genome project, advances in whole-genome … by genome-wide panels of SNPs
to enable genomic prediction in … type III domain containing 1 (ANKFN1) showed damaging …

… These candidate genes were mostly discovered by statistical enrichment of deleterious
mutations or by segregation analysis in a simplex family. Unlike the HSCR genes identified from …

… -phenotype information on human pathogenic variants from the Human Gene Mutation
Database (HGMD), DeepSEA has the capacity to forecast the deleterious regulatory impacts that …

… The stop-gain variant is presumed to cause loss of function of the gene at vascular endothelial
tight junctions (Merello et al. 2016). It is predicted to be deleterious by multiple lines of …

… The study of human genomes has revolutionized our … We identified deleterious variants in
a list of 24 genes that are all … This resulted in 5 most deleterious mutations within the ACTRT2, …

… We used identity-by-descent analysis to identify related … that different mutations within a
gene cause the same damaging … protein-coding genes in the human genome. Correlation of …

… This study identified biallelic mutations as the underlying cause of early onset DFNB in six
… MAFs were obtained from several public human genome databases: the GDV, the Exome …

… Burrows-Wheeler Aligner (BWA) was used to map the reads to the human genome reference
(hg19 build) after ensuring the elimination of low-quality reads [7]. SAM tools were used to …