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Fig. 1 | BMC Bioinformatics

Fig. 1

From: topr: an R package for viewing and annotating genetic association results

Fig. 1

Regional and Manhattan plots of single and multiple GWAS results generated using topr´s plotting functions. A single GWAS manhattan plot A showing Crohn’s disease association over the entire genome, with index/lead variants (top variant per 1 Mb window), with p-values below 5 × 10−9 annotated with their nearest genes. A multi-GWAS manhattan plot B displaying three association results for Crohn´s disease on the top panel and association results for Ulcerative Colitis on the bottom panel. The top plot shows Crohn´s disease associations from UKBB (orange) and FinnGen (turquoise), along with their combined (meta) association results (dark blue). An example regionplot C zoomed in on the IL23R gene, showing associations to Crohn´s disease in one of topr´s example datasets. The two variants are labelled with their rsid´s and vertical lines highlight their positions in relation to the genes below. The horizontal lines in the main plot represent three different significance thresholds. By default, a significance threshold of − log10(5 × 10−8) is displayed on all plots. The line can be removed, altered or multiple thresholds shown. A multi GWAS regional plot D displaying Crohn’s disease association over the IL23R gene in three different datasets (UKBB, Finngen and combined meta) with the top variant within the region for each dataset highlighted by their variant id and vertical lines highlighting their positions within the genes below. A regional locuszoom plot E displaying the LD pattern between the top variant and the other variants within the region

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