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Detection of uniparental disomy from genome sequencing of family trio

We created a bioinformatics pipeline to detect uniparental disomy from whole genome sequence data of family trios. We use inheritance patterns of single nucleotide polymorphisms to identify uniparental disomy events.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001008676 HiSeq X Ten 3
Publications Citations
Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance.
Genome Res 32: 2022 2134-2144