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report.html* | ||
test/output | ||
conda_env | ||
__pycache__/ |
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name: test_env | ||
channels: | ||
- bioconda | ||
- conda-forge | ||
- anaconda | ||
dependencies: | ||
- python>=3.8 | ||
- bioconda::gffutils=0.12 | ||
- bioconda::pysam=0.22.0 | ||
- conda-forge::pytest=8.0.0 | ||
- conda-forge::pytest-workflow=2.0.1 | ||
- conda-forge::logzero=1.7.0 | ||
- conda-forge::biopython=1.83 | ||
- conda-forge::python-xxhash=3.4.1 | ||
- conda-forge::r-base | ||
- conda-forge::r-optparse | ||
- conda-forge::r-tidyverse | ||
- conda-forge::r-randomForest |
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from bin.fusionannotation import FusionAnnotation | ||
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def test_breakpoints_to_dict(): | ||
pass |
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from bin.fusionreadfilter import FusionReadFilter | ||
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def test_fusionreadfilter(): | ||
pass |
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#from bin.merge_data import FusionSummary | ||
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def test_normalize_counts_cpm(): | ||
pass |
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Very short summary of found candidate somatic fusion genes | ||
======================================================= ==== | ||
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Found 8 somatic fusion gene(s), which are as follows: | ||
* TMPRSS2--ETV1 (already known fusion) | ||
* EWSR1--ATF1 (already known fusion; exon-exon fusion junction) | ||
* AKAP9--BRAF (already known fusion; exon-exon fusion junction) | ||
* ETV6--NTRK3 (already known fusion; exon-exon fusion junction) | ||
* HOOK3--RET (already known fusion; exon-exon fusion junction) | ||
* EWSR1--FLI1 (already known fusion; exon-exon fusion junction) | ||
* BRD4--NUTM1 (already known fusion; exon-exon fusion junction) | ||
* CD74--ROS1 (already known fusion; exon-exon fusion junction) | ||
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Found 8 somatic fusion transcript(s). | ||
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For more detailed information regarding these candidate fusions, see text file 'final-list_candidate-fusion-genes.txt'. |
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Gene_1_symbol(5end_fusion_partner) Gene_2_symbol(3end_fusion_partner) Fusion_description Counts_of_common_mapping_reads Spanning_pairs Spanning_unique_reads Longest_anchor_found Fusion_finding_method Fusion_point_for_gene_1(5end_fusion_partner) Fusion_point_for_gene_2(3end_fusion_partner) Gene_1_id(5end_fusion_partner) Gene_2_id(3end_fusion_partner) Exon_1_id(5end_fusion_partner) Exon_2_id(3end_fusion_partner) Fusion_sequence Predicted_effect | ||
TMPRSS2 ETV1 known,oncogene,cosmic,chimer2,cgp,ticdb,chimer4kb,chimer4pub,chimer4seq,cancer,tumor,tcga-cancer,oncokb,mitelman,t43 0 367 16 25 BOWTIE+BLAT 21:41494380:- 7:13935843:- ENSG00000184012 ENSG00000006468 GGTCCTGACGCAGGCTTCCAACCCCGTCGTCTGCACGCAGCCCAAATCCC*CATCCAGCACGCCAGTGTCCCCACTGCATCATGCATCTCCAAACTCAACT in-frame | ||
EWSR1 ATF1 known,oncogene,cosmic,cgp,ticdb,chimer4kb,chimer4pub,chimer4seq,cancer,tumor,m114,oncokb,mitelman,t24,exon-exon 0 363 23 25 BOWTIE 22:29287134:+ 12:50814280:+ ENSG00000182944 ENSG00000123268 ENSE00003570564 ENSE00003675908 CAATATAGCCAACAGAGCAGCAGCTACGGGCAGCAGA*CTGCATCAGGAGATATGCAAACATATCAGATCCGAAC in-frame | ||
AKAP9 BRAF known,oncogene,cosmic,chimer2,cgp,ticdb,chimer4kb,chimer4pub,chimer4seq,cancer,tumor,oncokb,mitelman,t34,exon-exon 0 340 21 25 BOWTIE 7:92003235:+ 7:140787584:- ENSG00000127914 ENSG00000157764 ENSE00003484877 ENSE00003680515 ACTTCAGAAAGAACTCAATGTACTTAAATCAGAACAG*GACTTGATTAGAGACCAAGGATTTCGTGGTGATGGAG in-frame | ||
ETV6 NTRK3 known,oncogene,cosmic,chimer2,cgp,ticdb,tcga,ccle2,18cancers,chimer4kb,chimer4pub,chimer4seq,cancer,tumor,tcga-cancer,tcga2,oncokb,mitelman,pcawg,tcga3,t32,exon-exon 0 299 23 25 BOWTIE 12:11869969:+ 15:87940753:- ENSG00000139083 ENSG00000140538 ENSE00001788162 ENSE00001134154 CCTGAAGAGCACGCCATGCCCATTGGGAGAATAGCAG*ATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAA in-frame | ||
HOOK3 RET known,oncogene,cosmic,cgp,ticdb,chimer4kb,chimer4pub,chimer4seq,cancer,tumor,mitelman,t43,exon-exon 0 298 20 25 BOWTIE 8:42968214:+ 10:43116584:+ ENSG00000168172 ENSG00000165731 ENSE00003485179 ENSE00001095944 CGCAGCGCGAAGTCAACTTGAAACCTACAAGAGACAG*GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGG in-frame | ||
EWSR1 FLI1 known,oncogene,cosmic,cgp,ticdb,ccle2,chimer4kb,chimer4pub,chimer4seq,cancer,tumor,m85,oncokb,mitelman,ccle,t16,exon-exon 0 282 22 25 BOWTIE 22:29287134:+ 11:128807180:+ ENSG00000182944 ENSG00000151702 ENSE00003570564 ENSE00003702967 CAATATAGCCAACAGAGCAGCAGCTACGGGCAGCAGA*GTCCTCCCCTTGGAGGGGCACAAACGATCAGTAAGAA in-frame | ||
BRD4 NUTM1 known,oncogene,cosmic,chimer2,cgp,ticdb,ccle2,chimer4kb,chimer4pub,chimer4seq,cancer,oncokb,mitelman,ccle,t32,exon-exon 0 244 20 24 BOWTIE 19:15254152:- 15:34347969:+ ENSG00000141867 ENSG00000184507 ENSE00001187704 ENSE00001367212 GAGTCCAGCTCCTCTGACAGCGAAGACTCCGAAACAG*CATCTGCATTGCCGGGACCGGATATGAGCATGAAACC in-frame | ||
CD74 ROS1 known,oncogene,cosmic,chimer2,cgp,ticdb,tcga,ccle2,18cancers,chimer4kb,chimer4pub,chimer4seq,cancer,tumor,tcga-cancer,tcga2,oncokb,mitelman,pcawg,t29,exon-exon 0 152 22 25 BOWTIE 5:150404680:- 6:117324415:- ENSG00000019582 ENSG00000047936 ENSE00000841201 ENSE00000762702 TCCTTGGAGCAAAAGCCCACTGACGCTCCACCGAAAG*ATGATTTTTGGATACCAGAAACAAGTTTCATACTTAC in-frame |
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from bin.fusiontoolparser_helper import parse_fusioncatcher_results | ||
from bin.fusiontoolparser_helper import parse_starfusion_results | ||
from bin.fusiontoolparser_helper import parse_arriba_results | ||
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def test_parse_fusioncatcher_results(): | ||
infile = "tests/parsing/fusioncatcher_1.txt" | ||
infile2 = "tests/parsing/fusioncatcher_2.tsv" | ||
assert parse_fusioncatcher_results(infile, infile2) == { | ||
'21:41494380:-_7:13935843:-': [ | ||
'TMPRSS2_ETV1', '21:41494380:-', '7:13935843:-', '16', '367' | ||
], | ||
'22:29287134:+_12:50814280:+': [ | ||
'EWSR1_ATF1', '22:29287134:+', '12:50814280:+', '23', '363' | ||
], | ||
'7:92003235:+_7:140787584:-': [ | ||
'AKAP9_BRAF', '7:92003235:+', '7:140787584:-', '21', '340' | ||
], | ||
'12:11869969:+_15:87940753:-': [ | ||
'ETV6_NTRK3', '12:11869969:+', '15:87940753:-', '23', '299' | ||
], | ||
'8:42968214:+_10:43116584:+': [ | ||
'HOOK3_RET', '8:42968214:+', '10:43116584:+', '20', '298' | ||
], | ||
'22:29287134:+_11:128807180:+': [ | ||
'EWSR1_FLI1', '22:29287134:+', '11:128807180:+', '22', '282' | ||
], | ||
'19:15254152:-_15:34347969:+': [ | ||
'BRD4_NUTM1', '19:15254152:-', '15:34347969:+', '20', '244' | ||
], | ||
'5:150404680:-_6:117324415:-': [ | ||
'CD74_ROS1', '5:150404680:-', '6:117324415:-', '22', '152' | ||
] | ||
} | ||
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def test_parse_starfusion_results(): | ||
infile = "tests/parsing/starfusion.tsv" | ||
assert parse_starfusion_results(infile) == { | ||
'12:11869969:+_15:87940753:-': [ | ||
'ETV6_NTRK3', '12:11869969:+', '15:87940753:-', '160', '390' | ||
], | ||
'22:29287134:+_11:128807180:+': [ | ||
'EWSR1_FLI1', '22:29287134:+', '11:128807180:+', '140', '333' | ||
], | ||
'19:15254152:-_15:34347969:+': [ | ||
'BRD4_NUTM1', '19:15254152:-', '15:34347969:+', '132', '260' | ||
], | ||
'22:29287134:+_12:50814280:+': [ | ||
'EWSR1_ATF1', '22:29287134:+', '12:50814280:+', '129', '367' | ||
], | ||
'5:150404680:-_6:117324415:-': [ | ||
'CD74_ROS1', '5:150404680:-', '6:117324415:-', '125', '140' | ||
], | ||
'7:92003235:+_7:140787584:-': [ | ||
'AKAP9_BRAF', '7:92003235:+', '7:140787584:-', '120', '348' | ||
], | ||
'8:42968214:+_10:43116584:+': [ | ||
'HOOK3_RET', '8:42968214:+', '10:43116584:+', '94', '276' | ||
], | ||
'21:41494375:-_7:13935838:-': [ | ||
'TMPRSS2_ETV1', '21:41494375:-', '7:13935838:-', '76', '321' | ||
], | ||
'2:42301394:+_2:29223584:-': [ | ||
'EML4_ALK', '2:42301394:+', '2:29223584:-', '61', '256' | ||
] | ||
} | ||
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def test_parse_arriba_results(): | ||
infile = "tests/parsing/arriba.tsv" | ||
assert parse_arriba_results(infile) == { | ||
'12:11869969:+_15:87940753:-': [ | ||
'ETV6_NTRK3', '12:11869969:+', '15:87940753:-', '130', '300' | ||
], | ||
'7:92003235:+_7:140787584:-': [ | ||
'AKAP9_BRAF', '7:92003235:+', '7:140787584:-', '113', '299' | ||
], | ||
'22:29287134:+_11:128807180:+': [ | ||
'EWSR1_FLI1', '22:29287134:+', '11:128807180:+', '70', '299' | ||
], | ||
'8:42968214:+_10:43116584:+': [ | ||
'HOOK3_RET', '8:42968214:+', '10:43116584:+', '88', '275' | ||
], | ||
'22:29287134:+_12:50814280:+': [ | ||
'EWSR1_ATF1', '22:29287134:+', '12:50814280:+', '49', '299' | ||
], | ||
'19:15254152:-_15:34347969:+': [ | ||
'BRD4_NUTM1', '19:15254152:-', '15:34347969:+', '82', '232' | ||
], | ||
'2:42301394:+_2:29223584:-': [ | ||
'EML4_ALK', '2:42301394:+', '2:29223584:-', '52', '221' | ||
], | ||
'5:150404680:-_6:117324415:-': [ | ||
'CD74_ROS1', '5:150404680:-', '6:117324415:-', '75', '139' | ||
], | ||
'21:41494375:-_7:13935838:-': [ | ||
'TMPRSS2_ETV1', '21:41494375:-', '7:13935838:-', '59', '300' | ||
] | ||
} |
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- name: Parse results of fusion tools | ||
command: > | ||
bin/fusiontoolparser.py \ | ||
--input-fusioncatcher tests/parsing/fusioncatcher_1.txt \ | ||
--input-fusioncatcher2 tests/parsing/fusioncatcher_2.tsv \ | ||
--input-starfusion tests/parsing/starfusion.tsv \ | ||
--input-arriba tests/parsing/arriba.tsv \ | ||
-o tests/ \ | ||
-s test | ||
files: | ||
- path: "tests/Detected_Fusions.csv" |