Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

作者: Isaac J. Nijman , Joris M. van Montfrans , Marlous Hoogstraat , Marianne L. Boes , Lisette van de Corput

DOI: 10.1016/J.JACI.2013.08.032

关键词:

摘要: … of exomes was lower than in our targeted approach (<85× vs >100×), CFD and ELANE coverage was higher in the exome data compared with that in our NGS approach, which could be …

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