title: exome sequencing of homo sapiens: whole blood: Sample 3e3d103a-7c05-40a5-ad7b-693c5625fe4a
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