4eb9c6fb-a4b3-4281-b38b-e51748cd532f
exome sequencing of homo sapiens: whole blood: Sample 4eb9c6fb-a4b3-4281-b38b-e51748cd532f
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
4eb9c6fb-a4b3-4281-b38b-e51748cd532f
HMS-CC
4eb9c6fb-a4b3-4281-b38b-e51748cd532f
alignment_software
BWA v0.6.2