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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Merged VCF file from familial Meniere disease cohort

This dataset contains a merge VCF file generated from WES data of patients diagnosed with familial Meniere disease (FMD). Variant calling followed GATK best practices using the nf-core/Sarek pipeline (v3), and variants were filtered using genotype-level thresholds consistent with gnomAD filters. Multiallelic variants were split and INDELs were left-aligned during normalization. Variant Quality Score Recalibration (VQSR) was applied separately to SNVs and INDELs using well-established truth sets, with a 90% sensitivity threshold to maximize the detection of rare variants. Final variants were annotated with Ensembl VEP.

Request Access

DUO:0000007
version: 2021-02-23

disease specific research

This data use permission indicates that use is allowed provided it is related to the specified disease.

ModifiersMONDO:0007972

DUO:0000018
version: 2021-02-23

not for profit, non commercial use only

This data use modifier indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.

DUO:0000019
version: 2021-02-23

publication required

This data use modifier indicates that requestor agrees to make results of studies using the data available to the larger scientific community.

DUO:0000021
version: 2021-02-23

ethics approval required

This data use modifier indicates that the requestor must provide documentation of local IRB/ERB approval.

DUO:0000026
version: 2021-02-23

user specific restriction

This data use modifier indicates that use is limited to use by approved users.

DUO:0000029
version: 2021-02-23

return to database or resource

This data use modifier indicates that the requestor must return derived/enriched data to the database/resource.

DUO:0000044
version: 2021-02-23

population origins or ancestry research prohibited

This data use modifier indicates use for purposes of population, origin, or ancestry research is prohibited.

Controlled Access Policy for Meniere Disease Genomic Data

Access to the genomic data for Meniere Disease is restricted to approved researchers conducting health, medical, or biomedical studies. Use of data is prohibited for research on population origins or ancestry. Data users must agree to: - Use data only for the approved research purpose related to Meniere Disease. - Maintain data confidentiality and security. - Restrict access to authorized users only. - Return any derived data to the database if required. - Share results with the scientific community through publication. - Obtain prior ethics (IRB/ERB) approval. The data is provided for not-for-profit, non-commercial use. Any collaboration requests should be coordinated through the Data Access Committee.

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
EGAS50000001178 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
EGAF50000411997 csi 324.9 kB
EGAF50000411998 vcf.gz 42.1 MB
2 Files (42.5 MB)