alias: e4ef5b1b-72ce-4815-bb3a-d9c20aa25473
title: exome sequencing of homo sapiens: whole blood: Sample e4ef5b1b-72ce-4815-bb3a-d9c20aa25473
design: The 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: e4ef5b1b-72ce-4815-bb3a-d9c20aa25473
attributes.tag: alignment_software
attributes.value: BWA v0.6.2