24b9fdb9-5dc8-4b07-95d5-83adb676b23e
exome sequencing of homo sapiens: whole blood: Sample 24b9fdb9-5dc8-4b07-95d5-83adb676b23e
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
24b9fdb9-5dc8-4b07-95d5-83adb676b23e
HMS-CC
24b9fdb9-5dc8-4b07-95d5-83adb676b23e
alignment_software
BWA v0.6.2