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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PacBio Rare Disease Study

This study leverages PacBio HiFi long-read sequencing technology to comprehensively analyze the genomic architecture of rare diseases. By generating highly accurate, long-read sequences, we aim to resolve complex structural variants, repeat expansions, and other genomic features that are often missed by short-read sequencing. Our approach facilitates improved variant detection and interpretation, advancing the understanding of rare disease etiology and enabling more precise genetic diagnoses.

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PacBio Rare Disease Study - DAC Policy

Data Access Committee (DAC) Policy Title: Data Access Policy for PacBio Rare Disease Study Version: 1.0 Date: 28/05/2025 Institution: Institute of Human Genetics - University Hospital of Düsseldorf - Heinrich Heine University Düsseldorf DAC Name: PacBio Rare Disease Study - DAC Policy 1. Purpose This policy outlines the process and criteria under which access to the controlled datasets deposited in the EGA under the project "[Project Name]" is granted by the Data Access Committee (DAC) of Institute of Human Genetics - University Hospital of Düsseldorf. 2. Scope This policy applies to all genomic and meta data associated with the PacBio Rare Disease Study, which have been designated as controlled-access due to privacy and ethical considerations. 3. Eligibility Access to the data is restricted to: - Qualified researchers affiliated with recognized research institutions. - Individuals with an approved research project compatible with the participant consent agreements. - Users who agree to comply with all data protection and ethical standards outlined herein. 4. Application Process To request access, applicants must: - Submit an EGA Data Access Request (DAR) via the EGA portal. - Provide a detailed research proposal. - Supply evidence of institutional ethical approval. - Sign a Data Access Agreement (DAA) specifying data use limitations. 5. Review Procedure The DAC will: - Review applications within [e.g., 30] working days. - Evaluate based on scientific merit, compliance with consent, and data protection safeguards. - Notify the applicant of the decision via EGA. 6. Conditions of Use Users granted access must: - Use data exclusively for the approved project. - Not attempt to re-identify participants. - Not share data with unauthorized individuals. - Acknowledge the dataset in any resulting publications. - Comply with all applicable data protection laws (e.g., GDPR). 7. Compliance and Oversight The DAC reserves the right to: - Audit usage of the data. - Withdraw access if misuse or non-compliance is identified. - Update the policy in accordance with legal or ethical changes. 8. Contact For inquiries regarding access or this policy, contact: Email: sugirtahn.sivalingam@med.uni-duesseldorf.de

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
EGAS00001008170 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 Quality Report
Located in
i
EGAF00008741503 fastq.gz 15.7 GB
EGAF00008741504 fastq.gz 16.8 GB
EGAF00008741505 fastq.gz 15.4 GB
EGAF00008741506 fastq.gz 26.7 GB
EGAF00008741507 fastq.gz 27.6 GB
EGAF00008741508 fastq.gz 27.9 GB
EGAF00008741509 fastq.gz 20.2 GB
EGAF00008741510 fastq.gz 18.7 GB
EGAF00008741511 fastq.gz 27.2 GB
EGAF00008741512 fastq.gz 26.7 GB
EGAF00008741513 fastq.gz 27.0 GB
EGAF00008741514 fastq.gz 26.4 GB
EGAF00008741515 fastq.gz 26.5 GB
EGAF00008741516 fastq.gz 26.1 GB
EGAF00008741517 fastq.gz 25.7 GB
EGAF00008741518 fastq.gz 24.8 GB
EGAF00008741519 fastq.gz 17.1 GB
EGAF00008741520 fastq.gz 28.4 GB
EGAF00008741521 fastq.gz 27.1 GB
EGAF00008741522 fastq.gz 26.9 GB
EGAF00008741523 fastq.gz 26.5 GB
EGAF00008741524 fastq.gz 27.9 GB
EGAF00008741525 fastq.gz 28.8 GB
EGAF00008741526 fastq.gz 28.8 GB
EGAF00008741527 fastq.gz 26.0 GB
EGAF00008741528 fastq.gz 23.7 GB
EGAF00008741529 fastq.gz 24.4 GB
EGAF00008741530 fastq.gz 22.6 GB
EGAF00008741531 fastq.gz 23.3 GB
EGAF00008741532 fastq.gz 23.4 GB
30 Files (734.7 GB)