scAmp-seq of human bone marrow samples across ERCC6L2 disease and Shwachman-Diamond syndrome
This dataset contains .FASTQ files of targeted genotyping by single-cell amplicon sequencing (scAmp-seq) data of human bone marrow samples across ERCC6L2 disease (33 amplicon libraries from 15 samples from 9 patients) and Shwachman-Diamond syndrome (6 amplicon libraries from 4 samples from 3 patients). TP53 locus-specific scAmp-seq libraries were generated using a double-nested PCR approach resulting in four PCR rounds. Locus-specific reverse primers preserving the mutation site together with generic forward primers preserving the single-cell barcoding structure were designed. The resulting files were processed using CellRanger 6.0.2 pipelines with default parameters to generate FASTQ files.
- 03/07/2026
- 19 samples
- DAC: EGAC50000000022
- Technology: Illumina NovaSeq 6000
- Archive: Federated EGA Finland Federated EGA Node
Access application page in SD Apply for datasets EGAD50000002724 and EGAD50000002725
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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 |
|---|---|---|
| EGAS50000001880 | RNASeq |
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 | |
|---|---|---|---|---|
| EGAF50000810928 | fastq.gz | 51.8 MB | ||
| EGAF50000810929 | fastq.gz | 52.6 MB | ||
| EGAF50000810930 | fastq.gz | 193.1 MB | ||
| EGAF50000810931 | fastq.gz | 1.3 GB | ||
| EGAF50000810932 | fastq.gz | 55.4 MB | ||
| EGAF50000810933 | fastq.gz | 56.7 MB | ||
| EGAF50000810934 | fastq.gz | 189.6 MB | ||
| EGAF50000810935 | fastq.gz | 1.3 GB | ||
| EGAF50000810936 | fastq.gz | 83.9 MB | ||
| EGAF50000810937 | fastq.gz | 81.7 MB | ||
| EGAF50000810938 | fastq.gz | 266.9 MB | ||
| EGAF50000810939 | fastq.gz | 1.8 GB | ||
| EGAF50000810950 | fastq.gz | 128.6 MB | ||
| EGAF50000810951 | fastq.gz | 130.5 MB | ||
| EGAF50000810952 | fastq.gz | 369.0 MB | ||
| EGAF50000810953 | fastq.gz | 2.6 GB | ||
| EGAF50000810958 | fastq.gz | 194.0 MB | ||
| EGAF50000810959 | fastq.gz | 194.5 MB | ||
| EGAF50000810960 | fastq.gz | 710.3 MB | ||
| EGAF50000810961 | fastq.gz | 4.7 GB | ||
| EGAF50000810962 | fastq.gz | 100.3 MB | ||
| EGAF50000810963 | fastq.gz | 101.2 MB | ||
| EGAF50000810964 | fastq.gz | 408.5 MB | ||
| EGAF50000810965 | fastq.gz | 2.2 GB | ||
| EGAF50000810966 | fastq.gz | 124.7 MB | ||
| EGAF50000810967 | fastq.gz | 125.5 MB | ||
| EGAF50000810968 | fastq.gz | 492.2 MB | ||
| EGAF50000810969 | fastq.gz | 2.5 GB | ||
| EGAF50000810970 | fastq.gz | 173.5 MB | ||
| EGAF50000810971 | fastq.gz | 174.4 MB | ||
| EGAF50000810972 | fastq.gz | 686.3 MB | ||
| EGAF50000810973 | fastq.gz | 3.5 GB | ||
| EGAF50000811189 | fastq.gz | 209.6 MB | ||
| EGAF50000811190 | fastq.gz | 209.9 MB | ||
| EGAF50000811191 | fastq.gz | 703.8 MB | ||
| EGAF50000811192 | fastq.gz | 5.0 GB | ||
| EGAF50000811193 | fastq.gz | 120.4 MB | ||
| EGAF50000811194 | fastq.gz | 121.7 MB | ||
| EGAF50000811195 | fastq.gz | 419.8 MB | ||
| EGAF50000811196 | fastq.gz | 2.7 GB | ||
| EGAF50000811197 | fastq.gz | 134.8 MB | ||
| EGAF50000811198 | fastq.gz | 135.5 MB | ||
| EGAF50000811199 | fastq.gz | 521.0 MB | ||
| EGAF50000811276 | fastq.gz | 2.7 GB | ||
| EGAF50000811277 | fastq.gz | 122.6 MB | ||
| EGAF50000811278 | fastq.gz | 124.0 MB | ||
| EGAF50000811279 | fastq.gz | 447.6 MB | ||
| EGAF50000811280 | fastq.gz | 2.2 GB | ||
| EGAF50000811487 | fastq.gz | 112.6 MB | ||
| EGAF50000811488 | fastq.gz | 110.0 MB | ||
| EGAF50000811489 | fastq.gz | 391.8 MB | ||
| EGAF50000811550 | fastq.gz | 2.7 GB | ||
| EGAF50000811551 | fastq.gz | 235.3 MB | ||
| EGAF50000811552 | fastq.gz | 231.1 MB | ||
| EGAF50000811553 | fastq.gz | 710.9 MB | ||
| EGAF50000811554 | fastq.gz | 4.8 GB | ||
| EGAF50000811555 | fastq.gz | 213.9 MB | ||
| EGAF50000811556 | fastq.gz | 211.7 MB | ||
| EGAF50000811557 | fastq.gz | 633.0 MB | ||
| EGAF50000811558 | fastq.gz | 4.9 GB | ||
| EGAF50000811559 | fastq.gz | 223.5 MB | ||
| EGAF50000811560 | fastq.gz | 220.3 MB | ||
| EGAF50000811561 | fastq.gz | 674.0 MB | ||
| EGAF50000811562 | fastq.gz | 5.4 GB | ||
| EGAF50000811567 | fastq.gz | 140.3 MB | ||
| EGAF50000811568 | fastq.gz | 141.3 MB | ||
| EGAF50000811569 | fastq.gz | 475.5 MB | ||
| EGAF50000811570 | fastq.gz | 3.5 GB | ||
| EGAF50000811571 | fastq.gz | 99.8 MB | ||
| EGAF50000811572 | fastq.gz | 101.0 MB | ||
| EGAF50000811573 | fastq.gz | 355.6 MB | ||
| EGAF50000811574 | fastq.gz | 2.0 GB | ||
| EGAF50000811575 | fastq.gz | 190.4 MB | ||
| EGAF50000811576 | fastq.gz | 193.5 MB | ||
| EGAF50000811577 | fastq.gz | 609.5 MB | ||
| EGAF50000811578 | fastq.gz | 3.3 GB | ||
| EGAF50000811579 | fastq.gz | 211.6 MB | ||
| EGAF50000811580 | fastq.gz | 216.0 MB | ||
| EGAF50000811581 | fastq.gz | 674.5 MB | ||
| EGAF50000811582 | fastq.gz | 3.6 GB | ||
| EGAF50000811587 | fastq.gz | 100.5 MB | ||
| EGAF50000811588 | fastq.gz | 101.9 MB | ||
| EGAF50000811589 | fastq.gz | 341.4 MB | ||
| EGAF50000811590 | fastq.gz | 2.0 GB | ||
| EGAF50000811591 | fastq.gz | 213.2 MB | ||
| EGAF50000811592 | fastq.gz | 215.6 MB | ||
| EGAF50000811593 | fastq.gz | 743.0 MB | ||
| EGAF50000811594 | fastq.gz | 4.5 GB | ||
| EGAF50000811611 | fastq.gz | 132.9 MB | ||
| EGAF50000811612 | fastq.gz | 130.2 MB | ||
| EGAF50000811613 | fastq.gz | 422.0 MB | ||
| EGAF50000811614 | fastq.gz | 2.2 GB | ||
| EGAF50000811619 | fastq.gz | 70.5 MB | ||
| EGAF50000811620 | fastq.gz | 71.1 MB | ||
| EGAF50000811621 | fastq.gz | 256.8 MB | ||
| EGAF50000811622 | fastq.gz | 1.3 GB | ||
| EGAF50000811639 | fastq.gz | 91.1 MB | ||
| EGAF50000811640 | fastq.gz | 88.8 MB | ||
| EGAF50000811641 | fastq.gz | 346.9 MB | ||
| EGAF50000811642 | fastq.gz | 2.0 GB | ||
| EGAF50000811643 | fastq.gz | 88.0 MB | ||
| EGAF50000811644 | fastq.gz | 85.1 MB | ||
| EGAF50000811645 | fastq.gz | 298.7 MB | ||
| EGAF50000811646 | fastq.gz | 1.7 GB | ||
| EGAF50000811647 | fastq.gz | 92.1 MB | ||
| EGAF50000811648 | fastq.gz | 89.7 MB | ||
| EGAF50000811649 | fastq.gz | 315.9 MB | ||
| EGAF50000811650 | fastq.gz | 1.8 GB | ||
| EGAF50000811667 | fastq.gz | 201.5 MB | ||
| EGAF50000811668 | fastq.gz | 198.4 MB | ||
| EGAF50000811669 | fastq.gz | 692.9 MB | ||
| EGAF50000811670 | fastq.gz | 4.7 GB | ||
| EGAF50000811671 | fastq.gz | 276.1 MB | ||
| EGAF50000811672 | fastq.gz | 272.2 MB | ||
| EGAF50000811673 | fastq.gz | 809.4 MB | ||
| EGAF50000811674 | fastq.gz | 7.7 GB | ||
| EGAF50000811675 | fastq.gz | 297.7 MB | ||
| EGAF50000811676 | fastq.gz | 294.1 MB | ||
| EGAF50000811677 | fastq.gz | 854.1 MB | ||
| EGAF50000811678 | fastq.gz | 8.2 GB | ||
| EGAF50000811695 | fastq.gz | 207.1 MB | ||
| EGAF50000811696 | fastq.gz | 203.1 MB | ||
| EGAF50000811697 | fastq.gz | 600.4 MB | ||
| EGAF50000811698 | fastq.gz | 3.0 GB | ||
| EGAF50000811703 | fastq.gz | 197.5 MB | ||
| EGAF50000811704 | fastq.gz | 200.0 MB | ||
| EGAF50000811705 | fastq.gz | 838.6 MB | ||
| EGAF50000811706 | fastq.gz | 3.9 GB | ||
| EGAF50000811707 | fastq.gz | 186.6 MB | ||
| EGAF50000811708 | fastq.gz | 189.1 MB | ||
| EGAF50000811709 | fastq.gz | 812.7 MB | ||
| EGAF50000811710 | fastq.gz | 3.9 GB | ||
| EGAF50000811759 | fastq.gz | 95.6 MB | ||
| EGAF50000811760 | fastq.gz | 93.4 MB | ||
| EGAF50000811761 | fastq.gz | 322.7 MB | ||
| EGAF50000811762 | fastq.gz | 2.3 GB | ||
| EGAF50000811779 | fastq.gz | 222.3 MB | ||
| EGAF50000811780 | fastq.gz | 219.1 MB | ||
| EGAF50000811781 | fastq.gz | 754.3 MB | ||
| EGAF50000811782 | fastq.gz | 6.2 GB | ||
| EGAF50000811783 | fastq.gz | 108.6 MB | ||
| EGAF50000811784 | fastq.gz | 106.1 MB | ||
| EGAF50000811785 | fastq.gz | 354.8 MB | ||
| EGAF50000811786 | fastq.gz | 2.0 GB | ||
| EGAF50000811787 | fastq.gz | 110.2 MB | ||
| EGAF50000811788 | fastq.gz | 107.9 MB | ||
| EGAF50000811789 | fastq.gz | 354.6 MB | ||
| EGAF50000811790 | fastq.gz | 2.0 GB | ||
| EGAF50000811795 | fastq.gz | 122.4 MB | ||
| EGAF50000811796 | fastq.gz | 118.5 MB | ||
| EGAF50000811797 | fastq.gz | 440.5 MB | ||
| EGAF50000811798 | fastq.gz | 2.8 GB | ||
| EGAF50000811803 | fastq.gz | 200.2 MB | ||
| EGAF50000811804 | fastq.gz | 196.0 MB | ||
| EGAF50000811805 | fastq.gz | 744.2 MB | ||
| EGAF50000811806 | fastq.gz | 4.4 GB | ||
| 156 Files (161.2 GB) | ||||
