ef8b5c9c-a07f-4b15-a021-fba22d0c73d4
exome sequencing of homo sapiens: whole blood: Sample ef8b5c9c-a07f-4b15-a021-fba22d0c73d4
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
ef8b5c9c-a07f-4b15-a021-fba22d0c73d4
HMS-CC
ef8b5c9c-a07f-4b15-a021-fba22d0c73d4
alignment_software
BWA v0.6.2