6dce4738-f257-4ad2-a686-c904e29abbae
exome sequencing of homo sapiens: whole blood: Sample 6dce4738-f257-4ad2-a686-c904e29abbae
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
6dce4738-f257-4ad2-a686-c904e29abbae
HMS-CC
6dce4738-f257-4ad2-a686-c904e29abbae
alignment_software
BWA v0.6.2