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.

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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?

There are no publications available