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Chunk #39 — Methods — Sample-based quality control

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The UK Biobank resource with deep phenotyping and genomic data.
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of, the sex chromosomes (but not affect the autosomes). For example, individuals with karyotype XXY will probably have poorer quality genotype calls on the pseudo-autosomal region (PAR) of the X chromosome, as they are effectively triploid in this region. Using information in the measured intensities of chromosomes X and Y, we identified a set of 652 (0.134%) individuals with sex chromosome karyotypes putatively different from XY or XX (Fig. 2d, Supplementary Table 2). The list of samples is provided as part of the data release. Researchers wanting to identify sex mismatches should compare the self-reported sex and inferred sex data fields.