alias: 5b427f1e-30d3-4934-91ec-b6092f8c6c36
title: exome sequencing of homo sapiens: whole blood: Sample 5b427f1e-30d3-4934-91ec-b6092f8c6c36
design: 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
identifiers.namespace: HMS-CC
identifiers.id: 5b427f1e-30d3-4934-91ec-b6092f8c6c36
attributes.tag: alignment_software
attributes.value: BWA v0.6.2