title: exome sequencing of homo sapiens: whole blood: Sample 82590db9-520d-48b8-b67c-5457074394ea
design: The whole exome capture utilizes the NimbleGen liquid capture on HGSC VCRome 2.1 that targets approximately 34 Mbp 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 spike-in probe set (Exome 3 - PKV2) is used in 1:1.25 equimolar ratio with the VCRome exome capture design
library_name: 82590db9-520d-48b8-b67c-5457074394ea
attributes.tag: alignment_software
attributes.value: BWA v0.6.2