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.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
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 |
2 |