Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

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 phenocop...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4767849/
https://www.ncbi.nlm.nih.gov/pubmed/26888179
http://dx.doi.org/10.1007/s12265-016-9673-5

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