3db3cfb4-c445-482a-becb-7adf5130fbce
exome sequencing of homo sapiens: whole blood: Sample 3db3cfb4-c445-482a-becb-7adf5130fbce
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
3db3cfb4-c445-482a-becb-7adf5130fbce
HMS-CC
3db3cfb4-c445-482a-becb-7adf5130fbce
alignment_software
BWA v0.6.2