comparison arriba.help @ 0:5ebf2354cc9b draft

"planemo upload for repository https://github.com/jj-umn/tools-iuc/tree/arriba/tools/arriba commit 52c9f9825debe783339c13bd1da9a42b59747bd2"
author jjohnson
date Thu, 07 Oct 2021 11:47:02 +0000
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1 % arriba -h
2 [2021-10-06T19:04:33] Launching Arriba 2.1.0
3
4 Arriba gene fusion detector
5 ---------------------------
6 Version: 2.1.0
7
8 Arriba is a fast tool to search for aberrant transcripts such as gene fusions.
9 It is based on chimeric alignments found by the STAR RNA-Seq aligner.
10
11 Usage: arriba [-c Chimeric.out.sam] -x Aligned.out.bam \
12 -g annotation.gtf -a assembly.fa [-b blacklists.tsv] [-k known_fusions.tsv] \
13 [-t tags.tsv] [-p protein_domains.gff3] [-d structural_variants_from_WGS.tsv] \
14 -o fusions.tsv [-O fusions.discarded.tsv] \
15 [OPTIONS]
16
17 -c FILE File in SAM/BAM/CRAM format with chimeric alignments as generated by STAR
18 (Chimeric.out.sam). This parameter is only required, if STAR was run with the
19 parameter '--chimOutType SeparateSAMold'. When STAR was run with the parameter
20 '--chimOutType WithinBAM', it suffices to pass the parameter -x to Arriba and -c
21 can be omitted.
22
23 -x FILE File in SAM/BAM/CRAM format with main alignments as generated by STAR
24 (Aligned.out.sam). Arriba extracts candidate reads from this file.
25
26 -g FILE GTF file with gene annotation. The file may be gzip-compressed.
27
28 -G GTF_FEATURES Comma-/space-separated list of names of GTF features.
29 Default: gene_name=gene_name|gene_id gene_id=gene_id
30 transcript_id=transcript_id feature_exon=exon feature_CDS=CDS
31
32 -a FILE FastA file with genome sequence (assembly). The file may be gzip-compressed. An
33 index with the file extension .fai must exist only if CRAM files are processed.
34
35 -b FILE File containing blacklisted events (recurrent artifacts and transcripts
36 observed in healthy tissue).
37
38 -k FILE File containing known/recurrent fusions. Some cancer entities are often
39 characterized by fusions between the same pair of genes. In order to boost
40 sensitivity, a list of known fusions can be supplied using this parameter. The list
41 must contain two columns with the names of the fused genes, separated by tabs.
42
43 -o FILE Output file with fusions that have passed all filters.
44
45 -O FILE Output file with fusions that were discarded due to filtering.
46
47 -t FILE Tab-separated file containing fusions to annotate with tags in the 'tags' column.
48 The first two columns specify the genes; the third column specifies the tag. The
49 file may be gzip-compressed.
50
51 -p FILE File in GFF3 format containing coordinates of the protein domains of genes. The
52 protein domains retained in a fusion are listed in the column
53 'retained_protein_domains'. The file may be gzip-compressed.
54
55 -d FILE Tab-separated file with coordinates of structural variants found using
56 whole-genome sequencing data. These coordinates serve to increase sensitivity
57 towards weakly expressed fusions and to eliminate fusions with low evidence.
58
59 -D MAX_GENOMIC_BREAKPOINT_DISTANCE When a file with genomic breakpoints obtained via
60 whole-genome sequencing is supplied via the -d
61 parameter, this parameter determines how far a
62 genomic breakpoint may be away from a
63 transcriptomic breakpoint to consider it as a
64 related event. For events inside genes, the
65 distance is added to the end of the gene; for
66 intergenic events, the distance threshold is
67 applied as is. Default: 100000
68
69 -s STRANDEDNESS Whether a strand-specific protocol was used for library preparation,
70 and if so, the type of strandedness (auto/yes/no/reverse). When
71 unstranded data is processed, the strand can sometimes be inferred from
72 splice-patterns. But in unclear situations, stranded data helps
73 resolve ambiguities. Default: auto
74
75 -i CONTIGS Comma-/space-separated list of interesting contigs. Fusions between genes
76 on other contigs are ignored. Contigs can be specified with or without the
77 prefix "chr". Asterisks (*) are treated as wild-cards.
78 Default: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y AC_* NC_*
79
80 -v CONTIGS Comma-/space-separated list of viral contigs. Asterisks (*) are treated as
81 wild-cards.
82 Default: AC_* NC_*
83
84 -f FILTERS Comma-/space-separated list of filters to disable. By default all filters are
85 enabled. Valid values: homologs, low_entropy, isoforms,
86 top_expressed_viral_contigs, viral_contigs, non_coding_neighbors,
87 mismatches, duplicates, no_genomic_support, genomic_support, intronic,
88 end_to_end, relative_support, low_coverage_viral_contigs,
89 merge_adjacent, mismappers, multimappers, same_gene, long_gap,
90 internal_tandem_duplication, small_insert_size, read_through,
91 inconsistently_clipped, uninteresting_contigs, intragenic_exonic,
92 spliced, hairpin, blacklist, min_support, select_best, in_vitro,
93 short_anchor, known_fusions, no_coverage, homopolymer, many_spliced
94
95 -E MAX_E-VALUE Arriba estimates the number of fusions with a given number of supporting
96 reads which one would expect to see by random chance. If the expected number
97 of fusions (e-value) is higher than this threshold, the fusion is
98 discarded by the 'relative_support' filter. Note: Increasing this
99 threshold can dramatically increase the number of false positives and may
100 increase the runtime of resource-intensive steps. Fractional values are
101 possible. Default: 0.300000
102
103 -S MIN_SUPPORTING_READS The 'min_support' filter discards all fusions with fewer than
104 this many supporting reads (split reads and discordant mates
105 combined). Default: 2
106
107 -m MAX_MISMAPPERS When more than this fraction of supporting reads turns out to be
108 mismappers, the 'mismappers' filter discards the fusion. Default:
109 0.800000
110
111 -L MAX_HOMOLOG_IDENTITY Genes with more than the given fraction of sequence identity are
112 considered homologs and removed by the 'homologs' filter.
113 Default: 0.300000
114
115 -H HOMOPOLYMER_LENGTH The 'homopolymer' filter removes breakpoints adjacent to
116 homopolymers of the given length or more. Default: 6
117
118 -R READ_THROUGH_DISTANCE The 'read_through' filter removes read-through fusions
119 where the breakpoints are less than the given distance away
120 from each other. Default: 10000
121
122 -A MIN_ANCHOR_LENGTH Alignment artifacts are often characterized by split reads coming
123 from only one gene and no discordant mates. Moreover, the split
124 reads only align to a short stretch in one of the genes. The
125 'short_anchor' filter removes these fusions. This parameter sets
126 the threshold in bp for what the filter considers short. Default: 23
127
128 -M MANY_SPLICED_EVENTS The 'many_spliced' filter recovers fusions between genes that
129 have at least this many spliced breakpoints. Default: 4
130
131 -K MAX_KMER_CONTENT The 'low_entropy' filter removes reads with repetitive 3-mers. If
132 the 3-mers make up more than the given fraction of the sequence, then
133 the read is discarded. Default: 0.600000
134
135 -V MAX_MISMATCH_PVALUE The 'mismatches' filter uses a binomial model to calculate a
136 p-value for observing a given number of mismatches in a read. If
137 the number of mismatches is too high, the read is discarded.
138 Default: 0.010000
139
140 -F FRAGMENT_LENGTH When paired-end data is given, the fragment length is estimated
141 automatically and this parameter has no effect. But when single-end
142 data is given, the mean fragment length should be specified to
143 effectively filter fusions that arise from hairpin structures.
144 Default: 200
145
146 -U MAX_READS Subsample fusions with more than the given number of supporting reads. This
147 improves performance without compromising sensitivity, as long as the
148 threshold is high. Counting of supporting reads beyond the threshold is
149 inaccurate, obviously. Default: 300
150
151 -Q QUANTILE Highly expressed genes are prone to produce artifacts during library
152 preparation. Genes with an expression above the given quantile are eligible
153 for filtering by the 'in_vitro' filter. Default: 0.998000
154
155 -e EXONIC_FRACTION The breakpoints of false-positive predictions of intragenic events
156 are often both in exons. True predictions are more likely to have at
157 least one breakpoint in an intron, because introns are larger. If the
158 fraction of exonic sequence between two breakpoints is smaller than
159 the given fraction, the 'intragenic_exonic' filter discards the
160 event. Default: 0.330000
161
162 -T TOP_N Only report viral integration sites of the top N most highly expressed viral
163 contigs. Default: 5
164
165 -C COVERED_FRACTION Ignore virally associated events if the virus is not fully
166 expressed, i.e., less than the given fraction of the viral contig is
167 transcribed. Default: 0.150000
168
169 -l MAX_ITD_LENGTH Maximum length of internal tandem duplications. Note: Increasing
170 this value beyond the default can impair performance and lead to many
171 false positives. Default: 100
172
173 -u Instead of performing duplicate marking itself, Arriba relies on duplicate marking by a
174 preceding program using the BAM_FDUP flag. This makes sense when unique molecular
175 identifiers (UMI) are used.
176
177 -X To reduce the runtime and file size, by default, the columns 'fusion_transcript',
178 'peptide_sequence', and 'read_identifiers' are left empty in the file containing
179 discarded fusion candidates (see parameter -O). When this flag is set, this extra
180 information is reported in the discarded fusions file.
181
182 -I If assembly of the fusion transcript sequence from the supporting reads is incomplete
183 (denoted as '...'), fill the gaps using the assembly sequence wherever possible.
184
185 -h Print help and exit.
186
187 Code repository: https://github.com/suhrig/arriba
188 Get help/report bugs: https://github.com/suhrig/arriba/issues
189 User manual: https://arriba.readthedocs.io/
190 Please cite: https://doi.org/10.1101/gr.257246.119
191