Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

ABSTRACT: Pulmonary arterial hypertension is a very infrequent disease, with a variable etiology and clinical expressivity, making sometimes the clinical diagnosis a challenge. Current classification based on clinical features does not reflect the underlying molecular profiling of these groups. The advance in massive parallel sequencing in PAH has allowed for the describing of several new causative and susceptibility genes related to PAH, improving overall patient diagnosis. In order to address the molecular diagnosis of patients with PAH we designed, validated, and routinely applied a custom panel including 21 genes. Three hundred patients from the National Spanish PAH Registry (REHAP) were included in the analysis. A custom script was developed to annotate and filter the variants. Variant classifi

SUBMITTER: Castano JAT 

PROVIDER: S-EPMC7650688 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature