Fig. 2: Gene prioritization results for FTLD-TDP subgroups.

A visual summary of weighted evidence category scores for the prioritized genes within genome-wide significant loci in related FTLD subtype-specific GWAS summary statistics. Using the gene prioritization strategy in these selected loci, we prioritized a total of 13 genes in 12 genome-wide significant loci at two different confidence levels (10 tier 1 and 3 tier 2 prioritized genes). The leftmost squares, which are colored in red for FTLD-TDP A, in blue for FTLD-TDP B, in lighter green for FTLD-TDP C, and in darker green for FTLD-TDP C* specific analyzes, indicate the locus index numbers for the genome-wide loci. The types of evidence for each category are colored according to the six different domains to which they belonged. Weighted scores for each evidence category are rescaled to a 0–100 scale based on the maximum score a candidate gene can obtain from a category (see Supplementary Data 3). The darker colors represent higher scores in categories, while tier 1 prioritized genes are displayed in dark green, and tier 2 prioritized genes are displayed in light green. Only tier 1 and tier 2 genes are shown for each locus, whereas all candidate genes considered and scored can be found in Supplementary Data 4. MAFs (based on gnomAD v4 non-Finnish European samples) and CADD (v1.7) PHRED scores for rare and/or protein-altering rare variants are labeled in white within the respective squares. eQTL expression QTL, sQTL splicing QTL, mQTL methylation QTL, pQTL protein-expression QTL, haQTL histone acetylation QTL, coloc colocalization, eTWAS expression transcriptome-wide association study, sTWAS splicing transcriptome-wide association study, PWAS proteome-wide association study, Mon Mac monocytes and macrophages, LCL lymphoblastoid cell line, QTLCat the eQTL catalog.