Study
Piloting exome resequencing in consanguineous families with homozygosity mapping intervals
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001000024 | Other |
Study Description
This pilot study aims to generate pilot data to inform future study designs in consanguineous families or inbred populations by resequencing the exome of six individuals from five families with neurodevelopmental diseases. For all of these families a single mapping interval containing the causal variant has previously been identified.
Study Datasets 1 dataset.
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 |
|---|---|---|---|
| EGAD00001000341 |
This pilot study aims to generate pilot data to inform future study designs in consanguineous families or inbred populations by resequencing the exome of six individuals from five families with neurodevelopmental diseases. For all of these families a single mapping interval containing the causal variant has previously been identified.
|
Illumina HiSeq 2000 | 6 |
Who archives the data?
