Open AccessWhole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm
Author(s) -
Yunsun Song,
Jong-Keuk Lee,
Jin-Ok Lee,
Boseong Kwon,
EulJu Seo,
Dae Chul Suh
Publication year - 2022
Publication title -
korean journal of radiology/korean journal of radiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.08
H-Index - 57
eISSN - 2005-8330
pISSN - 1229-6929
DOI - 10.3348/kjr.2021.0467
Subject(s) - exome sequencing , copy number variation , medicine , exome , genetics , microarray , phenotype , gene , microarray analysis techniques , bioinformatics , biology , genome , gene expression
Familial intracranial aneurysms (FIAs) are found in approximately 6%-20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of this study was to identify possible IA-associated variants using whole exome sequencing (WES) in selected Korean families with FIA.