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.