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docu update
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marc-sturm committed Dec 19, 2024
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15 changes: 9 additions & 6 deletions doc/tools/BamToFastq.md
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### BamToFastq tool help
BamToFastq (2024_08-110-g317f43b9)
BamToFastq (2024_11-41-g79ac725e)

Converts a coordinate-sorted BAM file to FASTQ files.

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Optional parameters:
-out2 <file> Read 2 output FASTQ.GZ file (required for pair-end samples).
Default value: ''
-mode <enum> Determine if BAM/CRAM contains paired-end or single-end reads (default: paired-end)
Default value: 'paired-end'
Valid: 'paired-end,single-end'
-reg <string> Export only reads in the given region. Format: chr:start-end.
Default value: ''
-remove_duplicates Does not export duplicate reads into the FASTQ file.
-remove_duplicates Does not export reads marked as duplicates in SAM flags into the FASTQ file.
Default value: 'false'
-compression_level <int> Output FASTQ compression level from 1 (fastest) to 9 (best compression).
Default value: '1'
-write_buffer_size <int> Output write buffer size (number of FASTQ entry pairs).
Default value: '100'
-ref <file> Reference genome for CRAM support (mandatory if CRAM is used).
Default value: ''
-extend <int> Extend all reads to the given length. Base 'N' and base qualiy '2' are used for extension.
Default value: '0'
-fix Keep only one read pair if several have the same name (note: needs much memory as read names are kept in memory).
Default value: 'false'

Special parameters:
--help Shows this help and exits.
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--settings [file] Settings override file (no other settings files are used).

### BamToFastq changelog
BamToFastq 2024_08-110-g317f43b9
BamToFastq 2024_11-41-g79ac725e

2024-12-13 Added 'fix' parameter.
2024-12-09 Added 'extend' parameter.
2023-03-22 Added mode for single-end samples (long reads).
2020-11-27 Added CRAM support.
2020-05-29 Massive speed-up by writing in background. Added 'compression_level' parameter.
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34 changes: 13 additions & 21 deletions doc/tools/NGSDAnnotateSV.md
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### NGSDAnnotateSV tool help
NGSDAnnotateSV (2024_08-110-g317f43b9)
NGSDAnnotateSV (2024_11-41-g79ac725e)

Annotates the structural variants of a given BEDPE file by the NGSD counts.

NOTICE: the parameter '-ignore_processing_system' will also use SVs from low quality samples (bad samples).
Annotates the structural variants in a given BEDPE file with the count of pathogenic SVs of classes 4 and 5 found in the NGSD.

Mandatory parameters:
-in <file> BEDPE file containing structural variants.
-out <file> Output BEDPE file containing annotated structural variants.
-ps <string> Processed sample name.
-in <file> BEDPE file containing structural variants.
-out <file> Output BEDPE file containing annotated structural variants.

Optional parameters:
-test Uses the test database instead of on the production database.
Default value: 'false'
-ignore_processing_system Use all SVs for annotation (otherwise only SVs from good samples of the same processing system are used)
Default value: 'false'
-debug Provide additional information in STDOUT (e.g. query runtime)
Default value: 'false'
-use_memory Creates the temporary tables in memory.
Default value: 'false'
-test Uses the test database instead of on the production database.
Default value: 'false'

Special parameters:
--help Shows this help and exits.
--version Prints version and exits.
--changelog Prints changeloge and exits.
--tdx Writes a Tool Definition Xml file. The file name is the application name with the suffix '.tdx'.
--settings [file] Settings override file (no other settings files are used).
--help Shows this help and exits.
--version Prints version and exits.
--changelog Prints changeloge and exits.
--tdx Writes a Tool Definition Xml file. The file name is the application name with the suffix '.tdx'.
--settings [file] Settings override file (no other settings files are used).

### NGSDAnnotateSV changelog
NGSDAnnotateSV 2024_08-110-g317f43b9
NGSDAnnotateSV 2024_11-41-g79ac725e

2024-12-17 Refactored to only annotate pathogenic SVs from NGSD
2020-03-12 Bugfix in match computation for INS and BND
2020-03-11 Updated match computation for INS and BND
2020-02-27 Added temporary db table with same processing system.
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34 changes: 34 additions & 0 deletions doc/tools/TsvDiff.md
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### TsvDiff tool help
TsvDiff (2024_11-41-g79ac725e)

Compares TSV files.

Mandatory parameters:
-in1 <file> First input TSV file.
-in2 <file> Second input TSV file.

Optional parameters:
-out <file> Output file with differences. If unset, writes to stdout.
Default value: ''
-skip_comments Do not compare comment lines starting with '##'.
Default value: 'false'
-skip_comments_matching <string> Comma-separated list of sub-strings for skipping comment lines (case-sensitive matching).
Default value: ''
-skip_cols <string> Comma-separated list of colums to skip.
Default value: ''
-no_error Do not exit with error state if differences are detected
Default value: 'false'
-debug Print debug output to stderr
Default value: 'false'

Special parameters:
--help Shows this help and exits.
--version Prints version and exits.
--changelog Prints changeloge and exits.
--tdx Writes a Tool Definition Xml file. The file name is the application name with the suffix '.tdx'.
--settings [file] Settings override file (no other settings files are used).

### TsvDiff changelog
TsvDiff 2024_11-41-g79ac725e

[back to ngs-bits](https://github.com/imgag/ngs-bits)
5 changes: 3 additions & 2 deletions doc/tools/VcfBreakMulti.md
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### VcfBreakMulti tool help
VcfBreakMulti (2024_08-113-g94a3b440)
VcfBreakMulti (2024_11-41-g79ac725e)

Breaks multi-allelic variants into several lines, making sure that allele-specific INFO/SAMPLE fields are still valid.

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--settings [file] Settings override file (no other settings files are used).

### VcfBreakMulti changelog
VcfBreakMulti 2024_08-113-g94a3b440
VcfBreakMulti 2024_11-41-g79ac725e

2024-11-21 Implemented handling of phased GT
2018-10-18 Initial implementation.
[back to ngs-bits](https://github.com/imgag/ngs-bits)

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