092c1ec4-9232-469a-a254-d9a9fb4d47c7
exome sequencing of homo sapiens: whole blood: Sample 092c1ec4-9232-469a-a254-d9a9fb4d47c7
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
092c1ec4-9232-469a-a254-d9a9fb4d47c7
HMS-CC
092c1ec4-9232-469a-a254-d9a9fb4d47c7
alignment_software
BWA v0.6.2