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XP patients NGS data collection from Gustave Roussy.

This dataset is composed of NGS data from 33 XP patients studied by WGS.

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XP skin cohort was obtained by performing Whole Genome Sequencing on 38 patients, from which 33 of them belong to our study. Libraries were subjected to paired-end sequencing on Illumina and all deposited files are in FASTQ format.

Data Access Policy for “Genomic characterization of XP patients” data Preamble Gustave Roussy set up a Data Access Committee (DAC) to process requests for access to the “Genomic characterization of XP patients” data. Article I. Data Access Committee Article I.1 Composition Gustave Roussy's DAC is composed of Sergey Nikolaev and Andrey Yurchenko. Article I.1 Missions Gustave Roussy's DAC is responsible for authorizing access to the data. Article II. Request for access to data Article II.1 Composition of the application file The data access request requires: - A summary of the study (synopsis template on github) : it can be very light: we just need to know the general question that is going to be addressed; - The CNIL declaration (on github) : we can take care of the submission part to the CNIL, once we receive it; - The standard contractual clauses signed (on github) if your country is located outside of the European Community (check if your country is concerned : https://www.cnil.fr/en/data-protection-around-the-world) - The opinion issued by an Institution Review Board / or ethical committee that evaluated the project and the composition of the committee(s), if any; - The confidentiality form (on github); - The documentation necessary to demonstrate compliance with all its data protection and security obligations (a security charter); - This data access policy signed Article II.2 Application procedures The request for access to the data is free. It is done by mail to the following addresses Sergey.Nikolaev@gustaveroussy.fr Andrei.Iurchenko@gustaveroussy.fr Article II.3. Examination of applications Following the filing of the file with the DAC, the latter: - verify its good orientation and completeness. Otherwise, the DAC will contact the requester for further information; - instruct the request for access to the data within one month after receiving the complete file. This time is given as an indication. Article III. Conditions of use of the data The applicants undertake to respect all the following measures and to have them respected by their staff as well as any other person(s) assisting them with the use of the data: - To collect only data adequate, relevant, limited and strictly necessary to the specific treatment that it with these data; - Do not use the data to which they can access for purposes other than those indicated in the application file; - Disclose this data only to persons duly authorized by reason of their duties and who have been indicated in the data access request file; - Do not make any copy of this data except that it is necessary for the execution of their research; - Take all necessary measures to avoid misuse or fraudulent use of this data; - Ensure that only secure means of communication will be used to transfer this data; - At the end of the research project, to fully restore the data, computer files and any information related to these data. When this task falls within its remit, the applicants undertake to ensure that the persons from whom they collect and / or use the data have been previously informed of the specific treatment that they are carrying out with their data. Article IV. Notification of data breach As soon as it becomes aware of this and within a maximum of twenty-four (24) hours, the requester notifies the DAC of any data breach. The requester provides to the DAC at the time of notification of the incident, or if this is not reasonably possible as soon as possible after the notification of the data breach, the following information regarding their violation: 1) The nature of the data breach; 2) The estimated number of people involved; 3) Categories of the person(s) involved; 4) The categories of Data concerned; 5) The estimated number of Data violated; Measures taken to remedy the data breach, including, measures to limit adverse effects and potential risks. The applicants shall as far as possible assist the DAC in reporting the data breach to the relevant control authorization and / or to the person(s) involved in the data breach. Article V. Data destruction At the end of the search, the applicants undertake, after having made sure of the terms relating to reversibility: - Destroy all data - Return all data to the DAC - Return the data to the subcontractor designated by the DAC The return must be accompanied by the destruction of all data (including copies) in the information systems of the applicant and their collaborators. First and last Name : Facility attached to : Date and place : Signature preceded by the mention ‘I pledge to respect this Data Access Policy or will be subject to legal penalties’

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
EGAS00001006732 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
EGAF00007553502 fastq.gz 83.0 GB
EGAF00007553503 fastq.gz 83.4 GB
EGAF00007553504 fastq.gz 80.8 GB
EGAF00007553505 fastq.gz 81.5 GB
EGAF00007553506 fastq.gz 82.4 GB
EGAF00007553507 fastq.gz 83.0 GB
EGAF00007553508 fastq.gz 82.9 GB
EGAF00007553509 fastq.gz 82.3 GB
EGAF00007553510 fastq.gz 83.8 GB
EGAF00007553511 fastq.gz 82.1 GB
EGAF00007553512 fastq.gz 83.7 GB
EGAF00007553513 fastq.gz 81.6 GB
EGAF00007553514 fastq.gz 70.0 GB
EGAF00007553515 fastq.gz 70.5 GB
EGAF00007553516 fastq.gz 80.6 GB
EGAF00007553517 fastq.gz 81.6 GB
EGAF00007553518 fastq.gz 82.3 GB
EGAF00007553519 fastq.gz 82.8 GB
EGAF00007553520 fastq.gz 82.0 GB
EGAF00007553521 fastq.gz 82.2 GB
EGAF00007553522 fastq.gz 92.3 GB
EGAF00007553523 fastq.gz 92.3 GB
EGAF00007553524 fastq.gz 39.9 GB
EGAF00007553525 fastq.gz 40.8 GB
EGAF00007553526 fastq.gz 37.7 GB
EGAF00007553527 fastq.gz 38.8 GB
EGAF00007553528 fastq.gz 92.4 GB
EGAF00007553529 fastq.gz 95.4 GB
EGAF00007553530 fastq.gz 112.5 GB
EGAF00007553531 fastq.gz 113.7 GB
EGAF00007553532 fastq.gz 41.0 GB
EGAF00007553533 fastq.gz 41.8 GB
EGAF00007553534 fastq.gz 48.6 GB
EGAF00007553535 fastq.gz 50.1 GB
EGAF00007553536 fastq.gz 52.7 GB
EGAF00007553537 fastq.gz 52.5 GB
EGAF00007553538 fastq.gz 46.8 GB
EGAF00007553539 fastq.gz 47.3 GB
EGAF00007553540 fastq.gz 54.5 GB
EGAF00007553541 fastq.gz 55.0 GB
EGAF00007553542 fastq.gz 104.1 GB
EGAF00007553543 fastq.gz 104.3 GB
EGAF00007553544 fastq.gz 44.5 GB
EGAF00007553545 fastq.gz 43.7 GB
EGAF00007553546 fastq.gz 42.6 GB
EGAF00007553547 fastq.gz 43.2 GB
EGAF00007553548 fastq.gz 42.7 GB
EGAF00007553549 fastq.gz 43.1 GB
EGAF00007553550 fastq.gz 46.6 GB
EGAF00007553551 fastq.gz 49.7 GB
EGAF00007553552 fastq.gz 45.1 GB
EGAF00007553553 fastq.gz 45.6 GB
EGAF00007553554 fastq.gz 45.3 GB
EGAF00007553555 fastq.gz 46.7 GB
EGAF00007832033 fastq.gz 49.8 GB
EGAF00007832034 fastq.gz 49.6 GB
EGAF00007832035 fastq.gz 60.9 GB
EGAF00007832036 fastq.gz 61.2 GB
EGAF00007832037 fastq.gz 66.5 GB
EGAF00007832038 fastq.gz 66.8 GB
EGAF00007832039 fastq.gz 41.2 GB
EGAF00007832040 fastq.gz 42.4 GB
EGAF00007832041 fastq.gz 56.3 GB
EGAF00007832042 fastq.gz 57.5 GB
EGAF00007832043 fastq.gz 55.9 GB
EGAF00007832044 fastq.gz 56.5 GB
EGAF00007832045 fastq.gz 39.8 GB
EGAF00007832046 fastq.gz 39.7 GB
EGAF00007832047 fastq.gz 39.9 GB
EGAF00007832048 fastq.gz 41.4 GB
EGAF00007832049 fastq.gz 39.4 GB
EGAF00007832050 fastq.gz 40.0 GB
EGAF00007832051 fastq.gz 39.5 GB
EGAF00007832052 fastq.gz 39.7 GB
EGAF00007832053 fastq.gz 56.1 GB
EGAF00007832054 fastq.gz 55.8 GB
EGAF00007832055 fastq.gz 57.1 GB
EGAF00007832056 fastq.gz 57.6 GB
EGAF00007832057 fastq.gz 47.9 GB
EGAF00007832058 fastq.gz 48.1 GB
EGAF00007832059 fq.gz 53.0 GB
EGAF00007832060 fq.gz 53.8 GB
EGAF00007832061 fastq.gz 45.1 GB
EGAF00007832062 fastq.gz 45.0 GB
EGAF00007832063 fastq.gz 65.4 GB
EGAF00007832064 fastq.gz 65.4 GB
EGAF00007832065 fastq.gz 72.9 GB
EGAF00007832066 fastq.gz 72.0 GB
EGAF00007832067 fastq.gz 43.3 GB
EGAF00007832068 fastq.gz 44.6 GB
EGAF00007832069 fastq.gz 67.1 GB
EGAF00007832070 fastq.gz 66.1 GB
EGAF00007832071 fastq.gz 44.5 GB
EGAF00007832072 fastq.gz 44.7 GB
EGAF00007832073 fastq.gz 45.4 GB
EGAF00007832074 fastq.gz 45.7 GB
EGAF00007832075 fastq.gz 44.3 GB
EGAF00007832076 fastq.gz 45.1 GB
EGAF00007832077 fastq.gz 45.0 GB
EGAF00007832078 fastq.gz 45.9 GB
EGAF00007832079 fastq.gz 47.2 GB
EGAF00007832080 fastq.gz 46.1 GB
EGAF00007832081 fastq.gz 45.5 GB
EGAF00007832082 fastq.gz 46.5 GB
EGAF00007832083 fastq.gz 70.5 GB
EGAF00007832084 fastq.gz 71.1 GB
EGAF00007832085 fastq.gz 50.5 GB
EGAF00007832086 fastq.gz 51.2 GB
EGAF00007832087 fastq.gz 46.1 GB
EGAF00007832088 fastq.gz 45.5 GB
EGAF00007832089 fastq.gz 46.4 GB
EGAF00007832090 fastq.gz 45.7 GB
EGAF00007832091 fastq.gz 47.7 GB
EGAF00007832092 fastq.gz 48.5 GB
EGAF00007832093 fastq.gz 74.4 GB
EGAF00007832094 fastq.gz 76.9 GB
EGAF00007833785 fastq.gz 41.0 GB
EGAF00007833786 fastq.gz 42.3 GB
EGAF00007833787 fastq.gz 43.2 GB
EGAF00007833788 fastq.gz 43.9 GB
EGAF00007833789 fastq.gz 41.0 GB
EGAF00007833790 fastq.gz 41.2 GB
EGAF00007833791 fastq.gz 41.9 GB
EGAF00007833792 fastq.gz 42.8 GB
EGAF00007833793 fastq.gz 41.6 GB
EGAF00007833794 fastq.gz 42.0 GB
EGAF00007833795 fastq.gz 56.3 GB
EGAF00007833796 fastq.gz 57.1 GB
EGAF00007833797 fastq.gz 56.4 GB
EGAF00007833798 fastq.gz 58.1 GB
130 Files (7.5 TB)