The_GENCODE_exome___sequencing_the_complete_human_exome-sc-2011-02-17
The_GENCODE_exome___sequencing_the_complete_human_exome
The aim of this study was to construct and assess a hybrid capture product which targeted the complete human GENCODE exome. This data has been described in the following article, Coffey et al., The GENCODE exome: sequencing the complete human exome. European Journal of Human Genetics advance online publication 2 March 2011; doi: 10.1038/ejhg.2011.2, and its further analysis can be freely submitted for publication. For information on the proper use of data shared by the Wellcome Trust Sanger Institute (including information on acknowledgement), please see http://www.sanger.ac.uk/datasharing/
We report the design of an extended set of targets for capturing the complete human exome, based on annotation from the GENCODE consortium. The extended set covers an addition 5,594 genes and 10.3 Mb compared to current sets which mainly target the CCDS database. The additional regions include potential disease genes previously inaccessible to exome resequencing studies, such as 43 genes linked to ion channel activity and 70 genes linked to protein kinase activity. In total, the new GENCODE exome set developed covers 47.9Mb and performed well in sequence capture experiments with HapMap and clinical samples. Samples within this study are prepared with either the CCDS or GENCODE exome products.