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

The genetic basis of pulmonary arterial hypertension (PAH) among Finnish PAH patients is poorly understood. We adopted a novel-targeted next-generation sequencing (NGS) approach called Oligonucleotide-Selective Sequencing (OS-Seq) and developed a custom data analysis and interpretation pipeline to i...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Vattulainen, Sanna, Aho, Joonas, Salmenperä, Pertteli, Bruce, Siina, Tallila, Jonna, Gentile, Massimiliano, Sankelo, Marja, Laitinen, Tarja, Koskenvuo, Juha W, Alastalo, Tero-Pekka, Myllykangas, Samuel
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Ltd 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521970/
https://ncbi.nlm.nih.gov/pubmed/26247051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.147
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