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. |