Article
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
Genome biology - 21 Sept 2011
Tariq Muhammad, Belmont John W, Lalani Seema, Smolarek Teresa, Ware Stephanie M
Abstract excerpt
BACKGROUND: Heterotaxy-spectrum cardiovascular disorders are challenging for traditional genetic analyses because of clinical and genetic heterogeneity, variable expressivity, and non-penetrance. In this study, high-resolution SNP genotyping and exon-targeted array comparative genomic hybridization platforms were coupled to whole-exome sequencing to identify a novel disease candidate gene. RESULTS: SNP genotyping...
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