ffc91329-de54-4b5c-952b-e8a6d4968620
exome sequencing of homo sapiens: whole blood: Sample ffc91329-de54-4b5c-952b-e8a6d4968620
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
ffc91329-de54-4b5c-952b-e8a6d4968620
HMS-CC
ffc91329-de54-4b5c-952b-e8a6d4968620
alignment_software
BWA v0.6.2