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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WES of serrated polyposis syndrome

Samples were obtained from patients diagnosed with serrated polyposis syndrome (SPS). To provide further detail, the dataset comprises two whole-exome sequencing samples from patients within the same family, uploaded in BAM file format with IDs 449758 and 449549. Exomic regions were sequenced using HiSeq2000 Platform (Illumina, San Diego, USA) and Sure SelectXT All Exon v5 kit (Agilent, Santa Clara, CA, USA) for exon enrichment. Only those potentially pathogenic germline genetic variants shared by both individuals were considered.

Request Access

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:0000020
version: 2021-02-23

collaboration required

This data use modifier indicates that the requestor must agree to collaboration with the primary study investigator(s).

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:0000042
version: 2021-02-23

general research use

This data use permission indicates that use is allowed for general research use for any research purpose.

IDIBAPS Biomedical Research Data

Data are available through controlled access for biomedical and health-related research purposes. Access requests will be reviewed by the IDIBAPS Data Access Committee (DAC). Applicants must submit a research proposal describing the intended use of the data and identify all individuals who will have access to the dataset. Data may only be used for the purposes approved by the DAC and must not be redistributed to third parties without prior written authorization. Users must not attempt to identify, contact, or otherwise infer the identity of research participants. All users must comply with applicable ethical requirements and data protection regulations, including the General Data Protection Regulation (GDPR). Publications, presentations, preprints, reports, software, or other research outputs generated using the data must acknowledge the original study, the contributing investigators, and the data source as specified by the Data Access Committee. Users must cite the study accession number and any related primary publications whenever applicable. The DAC may request notification of publications resulting from approved data access.

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
EGAS50000000765 Exome Sequencing
  • I modified by accident the Type of the study to Cancer Genomics and had to define it again as Exome Sequencing
  • Dataset associated to new DAC
  • Dataset Released

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
EGAF50000274889 bam 7.7 GB Report
EGAF50000274890 bam 7.6 GB Report
2 Files (15.3 GB)