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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.

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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

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000078849 bam 4.3 GB
EGAF00000078850 bam 4.2 GB
EGAF00000078851 bam 4.0 GB
EGAF00000078852 bam 4.2 GB
EGAF00000078853 bam 4.1 GB
EGAF00000078854 bam 3.9 GB
EGAF00000163376 bam 5.4 GB
EGAF00000163377 bam 5.4 GB
EGAF00000163378 bam 5.3 GB
EGAF00000163379 bam 5.4 GB
EGAF00000163380 bam 5.4 GB
EGAF00000163381 bam 5.3 GB
12 Files (57.0 GB)