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.
- 17/08/2017
- 46 samples
- DAC: EGAC00001000205
- Technology: Illumina HiSeq 2500
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 | Quality Report |
Located in
i
|
|---|---|---|---|---|
| EGAF00001592520 | cram | 1.2 GB | Report |
|
| EGAF00001592521 | cram | 1.2 GB | Report |
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| EGAF00001592522 | cram | 1.2 GB | Report |
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| EGAF00001592523 | cram | 1.4 GB | Report |
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| EGAF00001592524 | cram | 1.3 GB | Report |
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| EGAF00001592525 | cram | 1.3 GB | Report |
|
| EGAF00001592526 | cram | 1.4 GB | Report |
|
| EGAF00001592527 | cram | 1.3 GB | Report |
|
| EGAF00001592528 | cram | 1.2 GB | Report |
|
| EGAF00001592529 | cram | 1.2 GB | Report |
|
| EGAF00001592530 | cram | 1.2 GB | Report |
|
| EGAF00001592531 | cram | 1.3 GB | Report |
|
| EGAF00001592532 | cram | 1.3 GB | Report |
|
| EGAF00001592533 | cram | 1.3 GB | Report |
|
| EGAF00001592592 | cram | 1.0 GB | Report |
|
| EGAF00001592593 | cram | 971.7 MB | Report |
|
| EGAF00001592594 | cram | 1.0 GB | Report |
|
| EGAF00001592595 | cram | 2.1 GB | Report |
|
| EGAF00001592596 | cram | 1.1 GB | Report |
|
| EGAF00001592597 | cram | 1.1 GB | Report |
|
| EGAF00001592598 | cram | 1.1 GB | Report |
|
| EGAF00001592599 | cram | 1.1 GB | Report |
|
| EGAF00001592600 | cram | 1.0 GB | Report |
|
| EGAF00001592601 | cram | 970.6 MB | Report |
|
| EGAF00001592602 | cram | 1.0 GB | Report |
|
| EGAF00001592603 | cram | 2.1 GB | Report |
|
| EGAF00001592604 | cram | 1.1 GB | Report |
|
| EGAF00001592605 | cram | 1.1 GB | Report |
|
| EGAF00001592606 | cram | 1.1 GB | Report |
|
| EGAF00001592607 | cram | 1.1 GB | Report |
|
| EGAF00001592608 | cram | 1.1 GB | Report |
|
| EGAF00001592609 | cram | 1.2 GB | Report |
|
| EGAF00001592610 | cram | 1.0 GB | Report |
|
| EGAF00001592611 | cram | 1.1 GB | Report |
|
| EGAF00001592612 | cram | 1.1 GB | Report |
|
| EGAF00001592613 | cram | 1.1 GB | Report |
|
| EGAF00001592614 | cram | 1.4 GB | Report |
|
| EGAF00001592615 | cram | 1.5 GB | Report |
|
| EGAF00001592616 | cram | 1.1 GB | Report |
|
| EGAF00001592617 | cram | 1.2 GB | Report |
|
| EGAF00001592618 | cram | 1.0 GB | Report |
|
| EGAF00001592619 | cram | 1.1 GB | Report |
|
| EGAF00001592620 | cram | 1.1 GB | Report |
|
| EGAF00001592621 | cram | 1.1 GB | Report |
|
| EGAF00001592622 | cram | 1.4 GB | Report |
|
| EGAF00001592623 | cram | 1.5 GB | Report |
|
| EGAF00001592624 | cram | 1.2 GB | Report |
|
| EGAF00001592625 | cram | 1.1 GB | Report |
|
| EGAF00001592626 | cram | 1.2 GB | Report |
|
| EGAF00001592627 | cram | 1.2 GB | Report |
|
| EGAF00001592628 | cram | 1.2 GB | Report |
|
| EGAF00001592629 | cram | 1.3 GB | Report |
|
| EGAF00001592630 | cram | 1.3 GB | Report |
|
| EGAF00001592631 | cram | 1.3 GB | Report |
|
| EGAF00001592632 | cram | 1.3 GB | Report |
|
| EGAF00001592633 | cram | 1.2 GB | Report |
|
| EGAF00001592634 | cram | 1.2 GB | Report |
|
| EGAF00001592635 | cram | 1.2 GB | Report |
|
| EGAF00001592636 | cram | 1.2 GB | Report |
|
| EGAF00001592637 | cram | 1.3 GB | Report |
|
| EGAF00001592638 | cram | 1.3 GB | Report |
|
| EGAF00001592639 | cram | 1.3 GB | Report |
|
| EGAF00001592640 | cram | 1.4 GB | Report |
|
| EGAF00001592641 | cram | 1.3 GB | Report |
|
| EGAF00001593009 | cram | 1.2 GB | Report |
|
| EGAF00001593010 | cram | 1.2 GB | Report |
|
| EGAF00001593011 | cram | 1.2 GB | Report |
|
| EGAF00001593012 | cram | 1.1 GB | Report |
|
| EGAF00001593013 | cram | 1.1 GB | Report |
|
| EGAF00001593014 | cram | 1.3 GB | Report |
|
| EGAF00001593015 | cram | 1.3 GB | Report |
|
| EGAF00001593016 | cram | 1.1 GB | Report |
|
| EGAF00001593017 | cram | 1.2 GB | Report |
|
| EGAF00001593018 | cram | 1.2 GB | Report |
|
| EGAF00001593019 | cram | 1.2 GB | Report |
|
| EGAF00001593020 | cram | 1.1 GB | Report |
|
| EGAF00001593021 | cram | 1.1 GB | Report |
|
| EGAF00001593022 | cram | 1.3 GB | Report |
|
| EGAF00001593023 | cram | 1.3 GB | Report |
|
| EGAF00001593024 | cram | 1.1 GB | Report |
|
| EGAF00001593025 | cram | 1.3 GB | Report |
|
| EGAF00001593026 | cram | 1.3 GB | Report |
|
| EGAF00001593027 | cram | 1.1 GB | Report |
|
| EGAF00001593028 | cram | 1.1 GB | Report |
|
| EGAF00001593029 | cram | 1.2 GB | Report |
|
| EGAF00001593030 | cram | 1.3 GB | Report |
|
| EGAF00001593031 | cram | 1.3 GB | Report |
|
| EGAF00001593032 | cram | 1.3 GB | Report |
|
| EGAF00001593033 | cram | 1.1 GB | Report |
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| EGAF00001593034 | cram | 1.1 GB | Report |
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| EGAF00001593035 | cram | 1.2 GB | Report |
|
| EGAF00001593036 | cram | 1.3 GB | Report |
|
| 92 Files (112.1 GB) | ||||