title: exome sequencing of homo sapiens: whole blood: Sample 72c846cc-d6fb-47dc-88ab-b104a3057b36
design: The whole exome capture utilizes the NimbleGen liquid capture on HGSC VCRome 2.1, that targets approximately 34Mbp of genomic DNA including all coding exons of currently known disease genes (OMIM, HGMD, and GeneTests). To enhance the coverage of clinically relevant disease genes, the currently developed spike-in probe set (Exome 3  PKV2) is used in 1:1.25 equimolar ratio with the VCRome exome capture design.
attributes.tag: alignment_software
attributes.value: BWA v0.6.2