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. 2020 Oct 22;11(11):1247. doi: 10.3390/genes11111247

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© 2020 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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(A) Results of the pulmonary arterial hypertension (PAH) Cohort eQTL mapping. Genomic eQTL location (x-axis) plotted against the transcription start site of the gene associated with the eQTL. Bubble size and color are proportional to the effect size of the eQTL-gene association. (B) Pie chart showing the proportions of cis-, trans- and unmapped eQTL identified in the PAH Cohort eQTL mapping. Counts of eQTL within each category are shown next to the category name. An eQTL was considered ‘novel’ if it was eligible to be confirmed in at least one of the previously published studies and was not reported as an eQTL previously. Those eQTL that reached the study-specific significance threshold in at least one of the published studies were considered ‘confirmed’. Unmapped transcripts not yet annotated in the Ensembl database could not be confirmed. Ineligible eQTL were not tested by any of the three studies used for confirmation.

(A) Results of the pulmonary arterial hypertension (PAH) Cohort eQTL mapping. Genomic eQTL location (x-axis) plotted against the transcription start site of the gene associated with the eQTL. Bubble size and color are proportional to the effect size of the eQTL-gene association. (B) Pie chart showing the proportions of cis-, trans- and unmapped eQTL identified in the PAH Cohort eQTL mapping. Counts of eQTL within each category are shown next to the category name. An eQTL was considered ‘novel’ if it was eligible to be confirmed in at least one of the previously published studies and was not reported as an eQTL previously. Those eQTL that reached the study-specific significance threshold in at least one of the published studies were considered ‘confirmed’. Unmapped transcripts not yet annotated in the Ensembl database could not be confirmed. Ineligible eQTL were not tested by any of the three studies used for confirmation.