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Title: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes
Authors: Pua C.J.
Bhalshankar J.
Miao K.
Walsh R.
John S.
Lim S.Q.
Chow K.
Buchan R.
Soh B.Y.
Lio P.M.
Lim J.
Schafer S. 
Lim J.Q.
Tan P. 
Whiffin N.
Barton P.J.
Ware J.S.
Cook S.A. 
Keywords: Diagnostics
Inherited cardiac conditions
Targeted sequencing
Whole exome sequencing
Whole genome sequencing
Issue Date: 2016
Publisher: Springer New York LLC
Citation: Pua C.J., Bhalshankar J., Miao K., Walsh R., John S., Lim S.Q., Chow K., Buchan R., Soh B.Y., Lio P.M., Lim J., Schafer S., Lim J.Q., Tan P., Whiffin N., Barton P.J., Ware J.S., Cook S.A. (2016). Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. Journal of Cardiovascular Translational Research 9 (1) : 3-Nov. ScholarBank@NUS Repository.
Abstract: 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 (>99.8ÿ% at ò20? read depth, n = 12) and NextSeq (>99.9ÿ% at ò20?, n = 48) platforms with 100ÿ% sensitivity and precision for single nucleotide variants and indels across the protein-coding target on the MiSeq. In the final assay, 40 out of 43 established ICC genes informative in clinical practice achieved complete coverage (100ÿ% at ò20?). By comparison, whole exome sequencing (WES; ?80?), deep WES (?500?) and whole genome sequencing (WGS; ?70?) had poorer performance (88.1, 99.2 and 99.3ÿ% respectively at ò20?) across the ICC target. The assay described here delivers highly accurate and affordable sequencing of ICC genes, complemented by accessible cloud-based computation and informatics. See Editorial in this issue (DOI: 10.1007/s12265-015-9667-8). ? 2016, The Author(s).
Source Title: Journal of Cardiovascular Translational Research
ISSN: 19375387
DOI: 10.1007/s12265-016-9673-5
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