305edb17-d447-4550-b090-b0f9992508a5
exome sequencing of homo sapiens: whole blood: Sample 305edb17-d447-4550-b090-b0f9992508a5
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
305edb17-d447-4550-b090-b0f9992508a5
HMS-CC
305edb17-d447-4550-b090-b0f9992508a5
alignment_software
BWA v0.6.2