Fig. 1

Genome-wide identification and prioritization of highly recurrent regions (HRRs) based on 297 melanoma WGS data. a Schematic view of HRR detection strategy and functional enhancer screening in this study. b Circos diagram summarizing the full HRR content of melanoma (SNV: single-nucleotide variant, DEL: deletion, DUP: duplication, INV: inversion, and TRA: translocations). Colors of the tracks and label links are determined by mutation types, only genes with most highly recurrence mutation and driver evidence are labeled, genes are divided by color according to different evidence sources (yellow: genetic evidence, candidate melanoma driver genes with genetic evidence carrying significant mutations which were integrated from several large-scale sequencing studies and reviews [2, 3, 10]; green: functional evidence, melanoma essential genes with functional evidence which were collected from The Cancer Dependency Map (DepMap) [24, 25]; blue: literature evidence, putative melanoma cancer genes which were compiled from public cancer gene databases including CancerMine [26], IntOGen [27], and NCG [28]). c Top 50 significant SNV/INDEL-HRRs after correcting background mutations and covariates, genes are labeled according to genetic and functional evidence. Also, dots were filled by different color based on genomic attributes of HRRs (exon: blue; promoter: light green; enhancer: yellow). d Genomic features of the top 50 prioritized SV-HRRs, bar plot represents total recurrence of each HRR, the heatmap provides the genomic location (GRCh37/hg19), types of HRRs as well as their recurrence. Melanoma essential genes in the right panel are present according to different evidence sources