e00b1e2c-2849-4c34-97bb-2bdec2047e7a
exome sequencing of homo sapiens: whole blood: Sample e00b1e2c-2849-4c34-97bb-2bdec2047e7a
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
e00b1e2c-2849-4c34-97bb-2bdec2047e7a
HMS-CC
e00b1e2c-2849-4c34-97bb-2bdec2047e7a
alignment_software
BWA v0.6.2