Article
Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.
PloS one - 1 Jan 2015
Farlow Janice L, Lin Hai, Sauerbeck Laura, Lai Dongbing, Koller Daniel L, Pugh Elizabeth, Hetrick Kurt, Ling Hua, Kleinloog Rachel, van der Vlies Pieter, Deelen Patrick, Swertz Morris A, Verweij Bon H, Regli Luca, Rinkel Gabriel J E, Ruigrok Ynte M, Doheny Kimberly, Liu Yunlong, Broderick Joseph, Foroud Tatiana
Abstract excerpt
Genetic risk factors for intracranial aneurysm (IA) are not yet fully understood. Genomewide association studies have been successful at identifying common variants; however, the role of rare variation in IA susceptibility has not been fully explored. In this study, we report the use of whole exome sequencing (WES) in seven densely-affected families (45 individuals) recruited as part of the Familial Intracranial...
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