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Recurrent somatic JAK-STAT mutations within a RUNX1-mutated pedigree

Whole-exome sequencing of a RUNX1-mutated pedigree, including samples from mother, father and four offsprings. Recurrent somatic JAK-STAT mutations were found among the diseased individuals.

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Data sharing policy for Familial RUNX1-mutated pedigree project

European Genome-Phenome Archive c/o European Bioinformatics Institute Wellcome Trust Genome Campus Hinxton Cambridge CB10 1SD United Kingdom To whom it may concern, This document refers to the study, EGAS00001001862, which has been submitted to the European Genome Archive (EGA) for the restricted access by legitimate academic institutions that have agreed to comply with the terms of a Data Access Agreement drafted by Familial RUNX1-mutated pedigree project EGAC00001000496. There are a number of steps that a researcher must take to obtain access to this data and the process is overseen by our Data Access Committee, called Familial RUNX1-mutated pedigree project, contact Prof Jude Fitzgibbon, email j.fitzgibbon@qmul.ac.uk and Dr Csaba Bodor, email bodor.csaba1@med.semmelweis-univ.hu Please be advised that Dr Jun Wang, j.a.wang@qmul.ac.uk, is authorized to upload data to the EGA for archiving and distribution as part of your submission process, which will enable approved researchers to have encrypted access to the data. We can confirm that this submission is consistent with the informed consent of the participants of the study or has been granted ethical approval and is in accordance with the applicable laws and regulations. Yours Sincerely, Jude Fitzgibbon Professor of Personalised Cancer Medicine Centre for Haemato-Oncology Barts Cancer Institute - a Cancer Research UK Centre of Excellence Queen Mary, University of London John Vane Science Centre, Charterhouse Square, London EC1M 6BQ Tel: +44 (0)20 7882 3814 | Fax: +44 (0)20 7882 3891

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
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
EGAF00001226689 bam 10.9 GB
EGAF00001226690 bam 8.9 GB
EGAF00001226691 bam 11.6 GB
EGAF00001226692 bam 7.6 GB
EGAF00001226693 bam 8.8 GB
EGAF00001226694 bam 8.2 GB
6 Files (56.1 GB)