5ca7f2c4-2b0a-49a6-8ed4-3a01c8dfcdcc
exome sequencing of homo sapiens: whole blood: Sample 5ca7f2c4-2b0a-49a6-8ed4-3a01c8dfcdcc
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
5ca7f2c4-2b0a-49a6-8ed4-3a01c8dfcdcc
HMS-CC
5ca7f2c4-2b0a-49a6-8ed4-3a01c8dfcdcc
alignment_software
BWA v0.6.2