Fig. 2 | Nature Communications

Fig. 2

From: Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Fig. 2

Analysis of copy number deletions. a Deletions affecting the BMPR2 locus in 23 PAH cases. Genes are indicated in orange and labelled with their respective gene symbol. Deletions are drawn as blue boxes above the genome axis (grey) showing the genomic position on chromosome 2. The grey box highlights the location of BMPR2. b Locus zoom on BMPR2 highlighting the focal deletions affecting one or more exons. c WGS coverage profiles of a selected set of smaller and larger deletions, visualised with the Integrative Genomics Viewer (IGV)57, with deletions highlighted by red bars. d and e Manhattan plots of the genome-wide case-control comparison of large deletions. In d, all subject are considered. In e, subject with larger deletions affecting the BMPR2 locus are excluded. The adjusted P value threshold of 5 × 10−8 for genome-wide significance is indicated by the red line

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