eeaa6209-eb79-4620-9230-90ebcd9781d6
exome sequencing of homo sapiens: whole blood: Sample eeaa6209-eb79-4620-9230-90ebcd9781d6
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
eeaa6209-eb79-4620-9230-90ebcd9781d6
HMS-CC
eeaa6209-eb79-4620-9230-90ebcd9781d6
alignment_software
BWA v0.6.2