Article
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
Journal of cardiovascular translational research - 1 Feb 2016
Pua Chee Jian, Bhalshankar Jaydutt, Miao Kui, Walsh Roddy, John Shibu, Lim Shi Qi, Chow Kingsley, Buchan Rachel, Soh Bee Yong, Lio Pei Min, Lim Jaclyn, Schafer Sebastian, Lim Jing Quan, Tan Patrick, Whiffin Nicola, Barton Paul J, Ware James S, Cook Stuart A
Abstract excerpt
Inherited cardiac conditions (ICCs) are characterised by marked genetic and allelic heterogeneity and require extensive sequencing for genetic characterisation. We iteratively optimised a targeted gene capture panel for ICCs that includes disease-causing, putatively pathogenic, research and phenocopy genes (n = 174 genes). We achieved high coverage of the target region on both MiSeq (>99.8% at ≥ 20× read depth, n...
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