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For example, sites 9237 and 4458 both attained a stable variant count by 1996, however the first had an average variant count of 0.6 and the latter of 0.85 (Table 2; Figure 3).

For the RsaI there was a mean per-sample post-filter variant count of 38,439.1 ± 22,133.1 (SD), while HincII had a mean per-sample post-filter variant count of 11,214.7 ± 1093.4 (SD).

This was done under the assumption that the minimum frequency observed corresponds to a variant count of 1.

Figure S2 (Comparative variant count of other reported individual genomes with Pathan genome. Figure S3 (Novel SNVs in personal genomes in thirteen different ethnic groups).

With the aim of avoiding false positive SNPs due to sequencing errors (which may therefore be monomorphic loci), only both variants with a minimum variant count of 2 high-quality (HQ) bases and a minimum site depth of 8 (HQ bases) were considered as putative SNPs.

For samples with high mean read depth, variants were called using quality-based variant detection in CLC Genomics Workbench with a minimum read depth of 40x, minimum average quality of 20, and minimum required variant count of 2 present on both the forward and the reverse reads with a strand bias interval between 20-80% [ 20, 34].

Similar(54)

A variant count on a minimum of two reads was required with the variant present in both forward and reverse reads and a strand bias within a 20%-80 20%-80val.

To approximate a normal-like distribution, the logarithmic conversion was applied to the variant counts of the resulting genomic windows.

We identified a total of 3,813,440 SNVs, of which 3,683,999 (96.6%) were reported in the dbSNP database [ 9] and 129,441 were novel (Table  1) which were further compared with the novel variants count of other individual genomes from literature (Additional file 1: Figure S3) [ 10- 19].

Observed variant counts for each class.

Thus, for a heterozygote, the binomial distribution of the variant count is symmetric and depends only on the observed read depth.

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