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. 2022 Feb 15;12:790445. doi: 10.3389/fgene.2021.790445

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.