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Chunk #4 — Results — Concordance metrics

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A comparison of BeadChip and WGS genotyping outputs using partial validation by sanger sequencing.
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Percentages of discordant calls per chromosome for each sample are shown in Fig. 2. The average fraction of discordant results among all comparable genotyping results (intersection of BeadChip and WGS obtained genotyping data) was at 0.3317% for sample_001 (male), 0.8448% for sample_002 (female) and 0.7392% for sample_003 (male) which falls within the range reported previously [2]. Both the sequencing quality and mapping quality parameters were reproduced for all three sequenced samples with an average genotype concordance estimate being higher than 99%.