Fig. 1
From: Global inference of disease-causing single nucleotide variants from exome sequencing data
Schematic overview of Glints. Glints requires input candidate SNVs (e.g. VCF) and query disease of interest. The process of Glints consists of four parts: 1) annotate each SNV into four regions as Exon, Promoter, Intron and Splice site; 2) select and extract functional scores for each candidate SNV according to its region; 3) infer association between genes hosting candidate SNVs and query disease via multivariate regression; 4) integrate both variant-level and gene-level information via Fisher’s method and produces statistical significance (q-value) for each SNV