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Exome sequencing of a cohort of Rett syndromelike patients (2017-08-16)

The aim of the project is the definition of the molecular defect in a cohort of Rett-like patients negative for mutations in known disease genes. To this aim, a number of unrelated trios (patients plus parents) will be analysed by exome sequencing. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-08-16.

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Wellcome Trust Sanger Institute Data Sharing Policy

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
EGAS00001002059 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
EGAF00001592520 cram 1.2 GB
EGAF00001592521 cram 1.2 GB
EGAF00001592522 cram 1.2 GB
EGAF00001592523 cram 1.4 GB
EGAF00001592524 cram 1.3 GB
EGAF00001592525 cram 1.3 GB
EGAF00001592526 cram 1.4 GB
EGAF00001592527 cram 1.3 GB
EGAF00001592528 cram 1.2 GB
EGAF00001592529 cram 1.2 GB
EGAF00001592530 cram 1.2 GB
EGAF00001592531 cram 1.3 GB
EGAF00001592532 cram 1.3 GB
EGAF00001592533 cram 1.3 GB
EGAF00001592592 cram 1.0 GB
EGAF00001592593 cram 971.7 MB
EGAF00001592594 cram 1.0 GB
EGAF00001592595 cram 2.1 GB
EGAF00001592596 cram 1.1 GB
EGAF00001592597 cram 1.1 GB
EGAF00001592598 cram 1.1 GB
EGAF00001592599 cram 1.1 GB
EGAF00001592600 cram 1.0 GB
EGAF00001592601 cram 970.6 MB
EGAF00001592602 cram 1.0 GB
EGAF00001592603 cram 2.1 GB
EGAF00001592604 cram 1.1 GB
EGAF00001592605 cram 1.1 GB
EGAF00001592606 cram 1.1 GB
EGAF00001592607 cram 1.1 GB
EGAF00001592608 cram 1.1 GB
EGAF00001592609 cram 1.2 GB
EGAF00001592610 cram 1.0 GB
EGAF00001592611 cram 1.1 GB
EGAF00001592612 cram 1.1 GB
EGAF00001592613 cram 1.1 GB
EGAF00001592614 cram 1.4 GB
EGAF00001592615 cram 1.5 GB
EGAF00001592616 cram 1.1 GB
EGAF00001592617 cram 1.2 GB
EGAF00001592618 cram 1.0 GB
EGAF00001592619 cram 1.1 GB
EGAF00001592620 cram 1.1 GB
EGAF00001592621 cram 1.1 GB
EGAF00001592622 cram 1.4 GB
EGAF00001592623 cram 1.5 GB
EGAF00001592624 cram 1.2 GB
EGAF00001592625 cram 1.1 GB
EGAF00001592626 cram 1.2 GB
EGAF00001592627 cram 1.2 GB
EGAF00001592628 cram 1.2 GB
EGAF00001592629 cram 1.3 GB
EGAF00001592630 cram 1.3 GB
EGAF00001592631 cram 1.3 GB
EGAF00001592632 cram 1.3 GB
EGAF00001592633 cram 1.2 GB
EGAF00001592634 cram 1.2 GB
EGAF00001592635 cram 1.2 GB
EGAF00001592636 cram 1.2 GB
EGAF00001592637 cram 1.3 GB
EGAF00001592638 cram 1.3 GB
EGAF00001592639 cram 1.3 GB
EGAF00001592640 cram 1.4 GB
EGAF00001592641 cram 1.3 GB
EGAF00001593009 cram 1.2 GB
EGAF00001593010 cram 1.2 GB
EGAF00001593011 cram 1.2 GB
EGAF00001593012 cram 1.1 GB
EGAF00001593013 cram 1.1 GB
EGAF00001593014 cram 1.3 GB
EGAF00001593015 cram 1.3 GB
EGAF00001593016 cram 1.1 GB
EGAF00001593017 cram 1.2 GB
EGAF00001593018 cram 1.2 GB
EGAF00001593019 cram 1.2 GB
EGAF00001593020 cram 1.1 GB
EGAF00001593021 cram 1.1 GB
EGAF00001593022 cram 1.3 GB
EGAF00001593023 cram 1.3 GB
EGAF00001593024 cram 1.1 GB
EGAF00001593025 cram 1.3 GB
EGAF00001593026 cram 1.3 GB
EGAF00001593027 cram 1.1 GB
EGAF00001593028 cram 1.1 GB
EGAF00001593029 cram 1.2 GB
EGAF00001593030 cram 1.3 GB
EGAF00001593031 cram 1.3 GB
EGAF00001593032 cram 1.3 GB
EGAF00001593033 cram 1.1 GB
EGAF00001593034 cram 1.1 GB
EGAF00001593035 cram 1.2 GB
EGAF00001593036 cram 1.3 GB
92 Files (112.1 GB)