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Fig. 1 | Genome Medicine

Fig. 1

From: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Fig. 1

Gene-based association analysis using 1647 European IPAH cases and 18,819 European controls. a Results of a binomial test confined to rare, likely gene damaging (LGD) and predicted deleterious missense (D-Mis) variants or D-Mis only variants in 20,000 protein-coding genes. The control group included 11,101 unaffected SPARK parents and 7718 NFE gnomAD v2.1.1 individuals. Horizontal gray line indicates the Bonferroni-corrected threshold for significance. b Complete list of top association genes (FDR < 0.1)

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Genome Medicine

ISSN: 1756-994X

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