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outLyzer V3
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EtieM committed Oct 16, 2020
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48 changes: 28 additions & 20 deletions README.txt
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Copyright Etienne Muller (2016)

biomol.cfb@gmail.com
muller.etienne@hotmail.fr

outLyzer is a computer program whose purpose is to detect variations,
specifically low allele frequency variation, in next generation
Expand Down Expand Up @@ -36,10 +36,10 @@ same conditions as regards security.
The fact that you are presently reading this means that you have had
knowledge of the CeCILL license and that you accept its terms.

outLyzer version 2.0 31/05/2018
outLyzer version 3.0 16/10/2020

Author: Etienne Muller
E-mail: biomol.cfb@gmail.com
E-mail: muller.etienne@hotmail.fr
Sources: http://github.com/EtieM/outLyzer


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REQUIREMENTS
------------
- Linux OS
- Python v2.7
- Python v3
- Python librairies: subprocess / numpy / scipy / argparse / multiprocessing
- Samtools v1.2 or v1.3
- Samtools v1.2 to v1.9


INSTALLATION
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imbalance in the Forward-Reverse reads distribution in
the Forward / Reverse alternative Read Proportion
(-bal option)
-force FORCE Force noise background determination to go below a
fixed proportion of the Depth [default = disabled; 0
-> 1 ex: "-force 0.2"]
-HSM HSM HotSpot Metrics: Produce sensitivity Threshold for
HotSpot positions, in an additional file. Requires
formated HotSpot File in argument (see documentation
for more details).
-verbose VERBOSE If verbose mode is set to 1, details analysis process
steps [0]


Precisions for HSM option:
/!\ File required for HotSpot Metrics must be formatted as follows:

chrN startPosition Annotation

Each column must be separated by a tabulation, and annotation column must be present.
ex: chr12 25398284 KRAS_codon12


It will return a tabulated file containing for each position a local estimation of sensitivity, displayed as a percentage.


-positionAnalysis mode: $ python outLyzer.py positionAnalysis -bam fileToAnalyse.bam -ref referenceFile.fa -position chr12:123456 [-arguments]

This mode gives an evaluation of sequencing data and local noise background for one chromosomic position


optional arguments:
-h, --help show this help message and exit
-samtools SAMTOOLS Complete Samtools path if not specified in environment
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Score [7]
-WS WS Window Size: region (number of bp) around the mutation
on which background noise have to be determined [200]
-force FORCE Force noise background determination to go below a
fixed proportion of the Depth [default = disabled; 0
-> 1 ex: "-force 0.2"]


It directly displays results in standard output as follows:

['1', '0', '0', '0', '2', '0', '1', '0', '0', '0', '1', '1', '0', '1',
'1', '0', '0', '1', '0', '0', '0', '1', '0', '2', '1', '1', '0', '1',
'0', '0', '2', '2', '0', '0', '0', '1', '0', '1', '0', '0', '0', '0',
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Stretch nearby: None
Motif nearby: None


The sequence of numbers represents, for each genomic position in the analyzed window,
the number of alternative reads.

Alternative Allele: mutated base. (WT = Wild Type - No mutation on this position)
Depth = total number of reads aligned to this position
Allele Frequency = proportion of alternative reads
Expand All @@ -225,10 +232,11 @@ outLyzer has 2 main operating modes:
Raw background = sequencing background noise around the mutation, expressed in number of reads
Stretch nearby: indicates if there is a strecth nearby the mutation
Motif nearby: indicates if there is a repetitive DNA-sequence motif nearby the mutation


-Utilisation test:

$ python outLyzer_v2.0.py -ref reference.fasta -bed test_dataSet.bed -bam test_dataSet.bam -HSM HotSpot_positions_HSM.bed -AS -FRcor -output outputPath
$ python outLyzer_v3.0.py -ref reference.fasta -bed test_dataSet.bed -bam test_dataSet.bam -HSM HotSpot_positions_HSM.bed -AS -FRcor -output outputPath

Results should correspond to resultsExample files

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