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27 | 27 | regtools --help
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28 | 28 | ```
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29 | 29 |
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| 30 | +If one wishes to test their installation, we include test data under `test_data`. |
| 31 | + |
| 32 | +Here's an example command using that data along with the example output. |
| 33 | + |
| 34 | +```sh |
| 35 | +regtools cis-splice-effects identify -s RF -e 10 -i 10 test_data/HCC1395_chr22.vcf.gz test_data/HCC1395_tumor.bam test_data/chr22_with_ERCC92.fa test_data/chr22_with_ERCC92.gtf |
| 36 | + |
| 37 | +Variant 22 42129188 42129189 -1 |
| 38 | +Variant region is 22:42128784-42130813 |
| 39 | + |
| 40 | +chrom start end name score strand splice_site acceptors_skipped exons_skipped donors_skipped anchor known_donor known_acceptor known_junction gene_names gene_ids transcripts variant_info |
| 41 | +position = 22:42125408-42125409 |
| 42 | +position = 22:42130565-42130566 |
| 43 | +22 42125407 42130567 JUNC00000001 4 + GT-AG 0 0 0 D 1 0 0 NDUFA6-AS1 ENSG00000237037 ENST00000439129 22:42129188-42129189 |
| 44 | +position = 22:42128881-42128882 |
| 45 | +position = 22:42129670-42129671 |
| 46 | +22 42128880 42129672 JUNC00000002 3 + GT-AG 0 0 0 N 0 0 0 NA NA NA 22:42129188-42129189 |
| 47 | +position = 22:42128944-42128945 |
| 48 | +position = 22:42129031-42129032 |
| 49 | +22 42128943 42129033 JUNC00000003 4 - GT-GG 1 0 0 D 1 0 0 CYP2D6 ENSG00000100197 ENST00000360608,ENST00000389970,ENST00000488442 22:42129188-42129189 |
| 50 | +position = 22:42129783-42129784 |
| 51 | +position = 22:42143453-42143454 |
| 52 | +22 42129782 42143455 JUNC00000004 2 + GC-AG 9 8 9 N 0 0 0 NA NA NA 22:42129188-42129189 |
| 53 | +position = 22:42130224-42130225 |
| 54 | +position = 22:42130565-42130566 |
| 55 | +22 42130223 42130567 JUNC00000005 2 + GT-AG 0 0 0 N 0 0 0 NA NA NA 22:42129188-42129189 |
| 56 | +``` |
| 57 | + |
30 | 58 | For information about the individual RegTools commands, please see [the Commands page](commands/commands.md)
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31 | 59 |
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32 | 60 | ## Contribute
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