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Fig. 2 | BMC Bioinformatics

Fig. 2

From: Global inference of disease-causing single nucleotide variants from exome sequencing data

Fig. 2

Results on simulation studies based on sequencing data from 1000 Genome Project. For each region, results on simulation studies are summarized as four metrics: (1) the number of neutral variants; (2) TOP, the number of causal variants ranked in top 10; (3) MRR, the average rank ratio of causal variants; (4) AUC, the average area under the rank ROC. Regions are categorized into a Exon; b Promoter; c Intron; d Splice site. The x axis denotes different populations. Population abbreviations: ASW, people with African ancestry in Southwest United States; CEU, Utah residents with ancestry from Northern and Western Europe; CHB, Han Chinese in Beijing, China; CHS, Han Chinese South, China; CLM, Colombiansin Medellin, Colombia; FIN, Finnish in Finland; GBR, British from England and Scotland, UK; IBS, Iberian populations in Spain; LWK, Luhya in Webuye, Kenya; JPT, Japanese in Tokyo, Japan; MXL, people with Mexican ancestry in Los Angeles, California; PUR, Puerto Ricans in Puerto Rico; TSI, Toscani in Italia; YRI, Yoruba in Ibadan, Nigeria. Ancestry-based groups: AFR, African; AMR, Americas; EAS, East Asian; EUR, European

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