Article

Development of computational approaches for whole-genome sequence variation and deep phenotyping

2019-01-01

Abstract excerpt

The rare disease pulmonary arterial hypertension (PAH) results in high blood pressure in the lung caused by narrowing of lung arteries. Genes causative in PAH were discovered through family studies and very often harbour rare variants. However, the genetic cause in heritable (31%) and idiopathic (79%) PAH cases is not yet known but are speculated to be caused by rare variants. Advances in high-throughput sequencin...

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Literature Corpus work: 4f568bb7-4ad0-51dc-bce5-9906abe31af8
DOI: 10.17863/cam.30925

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