e4d63eaa-77a4-442e-bce2-1775642522ba
exome sequencing of homo sapiens: whole blood: Sample e4d63eaa-77a4-442e-bce2-1775642522ba
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
e4d63eaa-77a4-442e-bce2-1775642522ba
HMS-CC
e4d63eaa-77a4-442e-bce2-1775642522ba
alignment_software
BWA v0.6.2