Pathogenic Neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq
Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing predictions. Therefore, a targeted RNAseq-based approach was designed to detect pathogenic RNA splicing and associated pathogenic DNA variants. an in-house developed tool (QURNAS) was used to calculate the enrichment score (ERS) for each splicing event. RNA enrichment of NF1 and SPRED1 was done using SPET (NUGEN - NF1 only) and using SureSelect (Agilent - NF1 and SPRED1).
- 09/08/2021
- 47 samples
- DAC: EGAC00001002259
- Technology: NextSeq 500
DUO:0000006 version: 2019-01-07
health or medical or biomedical research
This data use permission indicates that use is allowed for health/medical/biomedical purposes; does not include the study of population origins or ancestry.
DUO:0000018 version: 2019-01-07
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:0000026 version: 2019-01-07
user specific restriction
This data use modifier indicates that use is limited to use by approved users.
Targeted RNA sequencing of NF1 and SPRED1
DUO:0000006 DUO:0000018 DUO:0000026
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 |
|---|---|---|
| EGAS00001005530 | 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
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| EGAF00005420432 | bam | 171.5 MB | Report |
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| EGAF00005420433 | bam | 445.9 MB | Report |
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| EGAF00005420434 | bam | 18.5 MB | Report |
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| EGAF00005420435 | bam | 1.2 GB | Report |
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| EGAF00005420436 | bam | 1.3 GB | Report |
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| EGAF00005420437 | bam | 1.2 GB | Report |
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| EGAF00005420438 | bam | 586.8 MB | Report |
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| EGAF00005420439 | bam | 1.3 GB | Report |
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| EGAF00005420440 | bam | 443.7 MB | Report |
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| EGAF00005420441 | bam | 591.3 MB | Report |
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| EGAF00005420442 | bam | 460.4 MB | Report |
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| EGAF00005420443 | bam | 141.0 MB | Report |
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| EGAF00005420444 | bam | 403.4 MB | Report |
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| EGAF00005420445 | bam | 142.3 MB | Report |
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| EGAF00005420446 | bam | 1.2 GB | Report |
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| EGAF00005420447 | bam | 417.4 MB | Report |
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| EGAF00005420448 | bam | 330.6 MB | Report |
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| EGAF00005420449 | bam | 1.4 GB | Report |
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| EGAF00005420450 | bam | 355.2 MB | Report |
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| EGAF00005420451 | bam | 322.2 MB | Report |
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| EGAF00005420452 | bam | 1.4 GB | Report |
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| EGAF00005420453 | bam | 416.0 MB | Report |
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| EGAF00005420454 | bam | 622.1 MB | Report |
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| EGAF00005420455 | bam | 154.8 MB | Report |
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| EGAF00005420456 | bam | 1.3 GB | Report |
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| EGAF00005420457 | bam | 1.1 GB | Report |
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| EGAF00005420458 | bam | 1.2 GB | Report |
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| EGAF00005420459 | bam | 598.1 MB | Report |
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| EGAF00005420460 | bam | 449.0 MB | Report |
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| EGAF00005420461 | bam | 164.3 MB | Report |
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| EGAF00005420462 | bam | 1.3 GB | Report |
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| EGAF00005420463 | bam | 126.0 MB | Report |
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| EGAF00005420464 | bam | 106.7 MB | Report |
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| EGAF00005420465 | bam | 146.1 MB | Report |
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| EGAF00005420466 | bam | 461.4 MB | Report |
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| EGAF00005420467 | bam | 573.1 MB | Report |
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| EGAF00005420468 | bam | 516.5 MB | Report |
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| EGAF00005420469 | bam | 1.2 GB | Report |
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| EGAF00005420470 | bam | 1.1 GB | Report |
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| EGAF00005420471 | bam | 1.3 GB | Report |
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| EGAF00005420472 | bam | 391.4 MB | Report |
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| EGAF00005420473 | bam | 582.6 MB | Report |
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| EGAF00005420474 | bam | 1.4 GB | Report |
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| EGAF00005420475 | bam | 458.9 MB | Report |
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| EGAF00005420476 | bam | 400.6 MB | Report |
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| EGAF00005420477 | bam | 399.5 MB | Report |
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| EGAF00005420478 | bam | 557.1 MB | Report |
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| 47 Files (30.7 GB) | ||||