Study

Detection of uniparental disomy from genome sequencing of family trio

Study ID Alternative Stable ID Type
EGAS00001006154 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001008676
We detected a uniparental paternal isodisomy event of chromosome 4 in a child. DNA was extracted from the blood. HiSeq X generated the sequence data.
HiSeq X Ten 3

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