10e1d7d8-1d23-4736-951b-18b1fe9022f1
exome sequencing of homo sapiens: whole blood: Sample 10e1d7d8-1d23-4736-951b-18b1fe9022f1
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
10e1d7d8-1d23-4736-951b-18b1fe9022f1
HMS-CC
10e1d7d8-1d23-4736-951b-18b1fe9022f1
alignment_software
BWA v0.6.2