Study

The_GENCODE_exome___sequencing_the_complete_human_exome

Study ID Alternative Stable ID Type
EGAS00001000016 Exome Sequencing

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001000003
Gencode Exome Pilot
Illumina Genome Analyzer II 7

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