About file location

As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
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Whole exome sequencing variant data for Mendelian disorders cohort

This dataset contains whole exome sequencing variant data (VCF files) from individuals with suspected Mendelian disorders, including sickle cell disease, muscular dystrophy, haemophilia, and Fanconi anemia. Variant calling was performed using the Illumina DRAGEN pipeline, with downstream variant prioritisation conducted using the Zi-Mendelian bioinformatics pipeline. The dataset supports research into rare genetic diseases and genomic variation in African populations.

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Controlled access policy for Mendelian disorder genomic data

Access to this dataset is controlled by the Zimbabwe Mendelian Disorders Genomics Data Access Committee (DAC). Data are available for research purposes related to human genetics and Mendelian disorders. Access will be granted to qualified researchers upon submission and approval of a data access request, including a research proposal and data use agreement. Data must not be used for re-identification of participants and must comply with all applicable ethical, legal, and institutional guidelines. Any secondary use of the data must align with the consent provided by participants.

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
EGAS50000001708 Exome Sequencing

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 Quality Report
Located in
i
EGAF50000707016 vcf.gz 2.6 MB
EGAF50000707017 vcf.gz 2.3 MB
EGAF50000707018 vcf.gz 2.6 MB
EGAF50000707019 vcf.gz 2.7 MB
EGAF50000707020 vcf.gz 2.4 MB
EGAF50000707021 vcf.gz 2.6 MB
EGAF50000707022 vcf.gz 2.5 MB
EGAF50000707023 vcf.gz 2.6 MB
EGAF50000707024 vcf.gz 2.5 MB
EGAF50000707025 vcf.gz 2.5 MB
10 Files (25.4 MB)