a47d349e-7f43-49d7-adaa-a2db5c25da6b
exome sequencing of homo sapiens: whole blood: Sample a47d349e-7f43-49d7-adaa-a2db5c25da6b
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
a47d349e-7f43-49d7-adaa-a2db5c25da6b
HMS-CC
a47d349e-7f43-49d7-adaa-a2db5c25da6b
alignment_software
BWA v0.6.2