Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.

[PUBLICATION] Mol Genet Genomic Med. 2015 Jul;3(4):354-62.

Genetic basis of pulmonary arterial hypertension (PAH) is well recognised but still rarely utilized in diagnostics settings. Diagnostic yield of comprehensive multi-gene panels in PAH is relatively unknown as current knowledge is gathered from studies evaluating only one gene at a time in a heterogenous patient population. Finnish PAH experts and Blueprint Genetics performed a collaborative research project where they screened 21 PAH-patients with the Blueprint Genetics PAH Panel.

Vattulainen S, Aho J, Salmenperä P, Bruce S, Tallila J, Gentile M, Sankelo M, Laitinen T, Koskenvuo JW, Alastalo TP, Myllykangas S.

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