5ab77b0b-0e9b-488b-bbff-4e3d0e57ad2f
exome sequencing of homo sapiens: whole blood: Sample 5ab77b0b-0e9b-488b-bbff-4e3d0e57ad2f
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
5ab77b0b-0e9b-488b-bbff-4e3d0e57ad2f
HMS-CC
5ab77b0b-0e9b-488b-bbff-4e3d0e57ad2f
alignment_software
BWA v0.6.2