c4f4b5ba-cafc-4cc8-bec2-97d137c4b1a0
exome sequencing of homo sapiens: whole blood: Sample c4f4b5ba-cafc-4cc8-bec2-97d137c4b1a0
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
c4f4b5ba-cafc-4cc8-bec2-97d137c4b1a0
HMS-CC
c4f4b5ba-cafc-4cc8-bec2-97d137c4b1a0
alignment_software
BWA v0.6.2