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Chunk #5 — Results — Mapping of analyzed variants

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A comparison of BeadChip and WGS genotyping outputs using partial validation by sanger sequencing.
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For each pair of BeadChip-genotyped neighboring variants, distance intervals were extracted within both concordant and discordant group to generate pairs of distance values before and after each variant, followed by their visualization. The resulting maps with a Gaussian kernel density estimation are shown in Fig. 3. The observed approximate evenness of distribution for both concordant and discordant variants supported by the visible clusters allocation along the bisectrix of the axes shows that both concordant and discordant variants are evenly distributed across the chromosome length, with no congregation across the genome. The only observed difference in cluster allocation arises from the frequency of observation for the variants from each group. In other words, less frequent discordant group corresponds to lower mapping density and, consequently, to more considerable distances between every two neighboring variants.