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Chunk #47 — Methods — Haplotype estimation

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The UK Biobank resource with deep phenotyping and genomic data.
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We assessed the accuracy of the phasing in a separate experiment by taking advantage of mother-father-child trios that were identified in the UK Biobank cohort. This family information can be used to infer the phase of a large number of markers in the trio parents. These family-inferred haplotypes were used as a truth set, as is common in the phasing literature. The parents of each trio were removed from the dataset and then haplotypes were estimated across chromosome 20 in a single run of SHAPEIT3. This dataset consisted of 16,175 autosomal markers. The inferred haplotypes were then compared to the truth set using the switch error metric. Using a set of 696 trios with self-reported ethnic background ‘British’ (within the broader-level group ‘white’) and no other twins or first- or second-degree relatives in the UK Biobank dataset, we estimated a median switch error rate of 0.229%. We also used a subset of 397 of these trios that also had no third-degree relatives and obtained a median switch error rate of 0.234%. These error rates are similar to those produced by