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Chunk #6 — 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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Overall randomness of the locations of discordant genotypes across the genome, measured as cluster evenness and cluster center distance from the bisectrix, was high. However, because locations of discordant variants were limited to variants present on the corresponding BeadChip, the comparison with WGS was necessarily limited to the locations of BeadChip genome variants only. For this reason, patterns in discordant genotypes location throughout the genome were only detectable at locations thoroughly covered by variants presented at BeadChip, which generally are outside any complex genomic regions. Because of that, it was unlikely to detect any unevenness in the WGS-derived discordant genotype calls distribution.