Gender prediction

Moon automatically predicts the gender of a sample based on the uploaded VCF file. This prediction is shown on the Patient info screen, and reduces the risk of entering an incorrect gender, which could in turn impact the results.

For prediction of the gender, Moon extracts the X-linked variants outside of the pseudoautosomal region from the VCF. Subsequently, the fraction of heterozygous calls among these variants is compared to predefined threshold values:

• < 0.25: predicted gender is male

• > 0.45: predicted gender is female

• > 0.25 and < 0.45: no reliable prediction is possible

For VCF files containing no or only a limited number of calls on the X chromosome, no prediction is displayed.