Piloting exome resequencing in consanguineous families with homozygosity mapping intervals
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.
- 27/05/2015
- 6 samples
- DAC: EGAC00001000205
- Technology: Illumina HiSeq 2000
Wellcome Trust Sanger Institute Data Sharing Policy
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001000024 | Other |
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