Journal article

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.

Janice L Farlow, Hai Lin, Laura Sauerbeck, Dongbing Lai, Daniel L Koller, Elizabeth Pugh, Kurt Hetrick, Hua Ling, Rachel Kleinloog, Pieter van der Vlies, Patrick Deelen, Morris A Swertz, Bon H Verweij, Luca Regli, Gabriel JE Rinkel, Ynte M Ruigrok, Kimberly Doheny, Yunlong Liu, Joseph Broderick, Tatiana Foroud Show all

PLoS One | Published : 2015

Abstract

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 Aneurysm study. WES variants were prioritized by functional prediction, frequency, predicted pathogenicity, and segregation within families. Using these criteria, 68 variants in 68 genes were prioritized across the seven families. Of the genes that were expressed in IA tissue, one ge..

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