TABLE 1.
Non-monomorphic variants captured by different platforms in this study.
| Variants | Infinium Global Screening Multi-Disease Array (GSA-MD) (N = 72) | 0.4X ultra low-coverage whole-genome sequencing (ulcWGS) (N = 72) | 30X hcWGS (N = 13) |
|---|---|---|---|
| Raw number of variants | 759,993 (v2.0) | NA* | 9,737,221 (nonmonomorphic) |
| 730,059 (v3.0) | |||
| Imputed number (nonmonomorphic) | 11,430,960 | 11,673,829 | 9,737,221 |
| Number of SNPs | 10,157,732 | 10,384,933 | 7,351,799 |
| Number of indels | 1,264,727 | 1,280,217 | 2,240,753 |
Note. All variants post-imputation for GSA-MD and ulcWGS platforms were unfiltered, with the exception of monomorphic variants. Similarly, 30× hcWGS data generated by GATK pipelines included only nonmonomorphic variants. The number of SNPs and indels were estimated separately. NA*: The pipeline to process ulcWGS data did not generate raw genotype hard calls; instead, it calculated posterior genotype likelihood for all polymorphic sites in the reference panel, later refined by the imputation tool GLIMPSE 1.0.0.