cc59c524-b8f8-446c-a1c2-0c7ad6d704ef
exome sequencing of homo sapiens: whole blood: Sample cc59c524-b8f8-446c-a1c2-0c7ad6d704ef
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
cc59c524-b8f8-446c-a1c2-0c7ad6d704ef
HMS-CC
cc59c524-b8f8-446c-a1c2-0c7ad6d704ef
alignment_software
BWA v0.6.2