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The combined pool sample (23.7 Gb) was processed with a minimal variant frequency of 0.3.
Reads were corrected for sequencing error using ShoRAH software, while population reconstruction was done using three different minimal variant frequency cut-offs of 1%, 2% and 5%.
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Only SNPs that were in agreement with the following parameters were used in the analysis: minimal coverage of 8, minimal variant coverage of 8, minimum variant frequency of 90%, and a p value ≤0.01.
When limiting the minimal variant rate for detection, we see that ViVan demonstrates the highest reproducibility (>91.7%) among methods in variants with frequencies >0.5%.
The variant frequency sliders (Fig. 1C) visualize the distribution of variants based on variant frequency values.
Variant calls were reported with coverage and variant frequency values.
The overall MUTYH variant frequency was 0.34%.
By default, any variants with variant frequency >90 are considered alternative homozygous, and any variants with variant frequency between 20 and 89 are considered alternative heterozygous.
The PGM variant calls were listed with total coverage (CV) and variant frequency (VF) values.
We then calculated variant frequencies in each subset.
We primed and validated the model using published variant frequencies.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com