Article

Bayesian inference associates rare <i>KDR</i> variants with specific phenotypes in pulmonary arterial hypertension

2019-12-12

Abstract excerpt

<h4>Background</h4> Approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbor rare mutations in disease-causing genes. To identify missing heritability in PAH we integrated deep phenotyping with whole-genome sequencing data using Bayesian statistics. <h4>Methods</h4> We analyzed 13,037 participants enrolled in the NIHR BioResource - Rare Diseases (NBR) study, of which 1,1...

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Literature Corpus work: 28383b48-cff5-511d-a21c-c6ae63f91da3
DOI: 10.1101/2019.12.11.871210

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