A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.

The cause of the single false-positive UPD event was found to be due to a slight excess of genotype errors resulting in an event called with a marginally significant P -value (0.00044).

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Using UPDio, all six UPD events were easily called from both platforms yielding highly significant P -values in both SNP and exome data.

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Whole-genome analysis counted an average of 278 informative genotypes per Mb, 20× greater density than our SNP platform, required 9 min and 27 Mb of memory and detected no UPD events beyond marginal significance.

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