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Chunk #18 — Results — Gender Checks and Sex Chromosome Aneuploidy

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Quality control and quality assurance in genotypic data for genome-wide association studies.
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or perhaps XY/XYY mosaics. Similarly, two males have a low Y intensity and may be XY/XO mosaics (one cell line, one blood). Several females have low X intensities and low X heterozygosity, indicating that they are XO or, perhaps more likely, XX/XO mosaics, since they are all cell line samples. As expected, many of the putative XX/XO mosaics show allelic imbalance in BAF plots of the X chromosome, which will be discussed in the next section. Data for samples with a sex (or other) chromosome abnormality are posted on dbGaP, but the affected chromosome is flagged.