Skip to main content

Table 2 Description of reference callsets used in analysis

From: Analytical validation of whole exome and whole genome sequencing for clinical applications

Dataset Notes (version, target intervals, etc.)
In-house Omni 2.5 Microarray Described in methods section
1000G Omni 2.5 Microarray As distributed in GATK Resource Bundle version 2.3
Hapmap Version 3.3. As distributed in GATK Resource Bundle version 2.3
Genome in a Bottle Version 2.17, dated Oct. 17 2013. Most restrictive “high confidence” intervals excluding simple repeats, segmental duplications, decoys, STRs, and known CNVs.
Autism(ASD) Panel 129 kilobase targeted clinical sequencing panel of genes related to austism spectrum disorder (ASD). Indels are left aligned.