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Fig. 1 | Human Genomics

Fig. 1

From: Novel analytical methods to interpret large sequencing data from small sample sizes

Fig. 1

Workflow to adjust the genotype matrix according to the AltAF. First, for polymorphisms with no AltAF, a theoretical MAF is added. Second, genotypes for polymorphisms with an AltAF ≥ 0.5 are inverted. Third, polymorphisms with no variant allele identified by NGS are excluded. Finally, VAFs are determined and reported in a contingency table. GT (genotype) = {0_0, 0_1, 1_1}, 0_0: reference homozygous, 0_1: heterozygous, 1_1: variant homozygous

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