Table 1. Experimental design and characteristics of DNA samples used in this study.
| Sample # | Gender | DNA source | Extraction method | Purified | WES/Vendora | WGS/Vendor (coverage) |
|---|---|---|---|---|---|---|
| 44 | female | blood | Qiagen column | no | no WGS | |
| 280 | female | blood | Chemagen | no | no WGS | |
| 326 | female | fibroblasts | Chemagen | no | Agilent/V1, V2 | no WGS |
| 2905 | male | blood | Chemagen | yes | NimbleGen/V1, V3 | no WGS |
| 7344 | female | blood | Chemagen | yes | Illumina/V1, V4 | HiSeq/V3 (30×) |
| 7739 | female | saliva | Chemagen | yes | HiSeq/V1 (60×), V3 (30×), V4 (30×) and XTen/V4 (60×) |
Qiagen column, DNA extraction using Qiagen QIAamp DNA Mini Kit; Chemagen, DNA extraction using PerkinElmer Chemagic Magnetic Separation Module I; Purified, purification of the extracted DNA by re-extraction using Qiagen QIAamp DNA Mini Kit; WES Agilent, SureSelect Human All Exon kit v5+UTR; WES NimbleGen, SeqCap EZ Exome (v3) +UTR; WES Illumina, Nextera Rapid Capture Expanded Exome; V1–V4, vendors 1–4; WGS HiSeq, TruSeq DNA PCR-Free Sample Preparation Kit on a HiSeq2000/2500 system; WGS XTen, TruSeq Nano DNA Sample Preparation Kit on a HiSeq X Ten system.
aFor all six samples.