Mercurial > repos > pfrommolt > ngsrich
diff NGSrich_0.5.5/README @ 0:89ad0a9cca52 default tip
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author | pfrommolt |
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date | Mon, 21 Nov 2011 08:12:19 -0500 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/NGSrich_0.5.5/README Mon Nov 21 08:12:19 2011 -0500 @@ -0,0 +1,89 @@ +NGSrich - Version 0.5.4 +Target enrichment performance for next-generation sequencing. + + +Description: +NGSrich is a tool for researchers concerned with target enrichment issues in next-generation sequencing. +It evaluates the target enrichment performance of target regions given in BED format and outputs +summary statistics, visualizations, and some additional files giving details on the analysis. + + +--------------------------------------------------------------------------------------------------------- + + +Usage: +java NGSrich evaluate -r <readsFile> -u <genomeName> -t <target> + [(-a|-g) <annotation>] [ -s <sName> ] [-T <tmpDir>] [ -o <outDir>] [-p <poor> -h <high>][--no-details] + + +The program should be started from the bin directory of the software. +Required arguments: + <readsFile>: Path to the read alignment file in SAM or BAM alignment format + (http://samtools.sourceforge.net/SAM-1.3.pdf) + <genomeName>: UCSC genome version name (e.g. 'hg19'). + <target>: Path to the target file in BED annotation format + (http://genome.ucsc.edu/FAQ/FAQformat.html#format1, 3 columns required) +Optional arguments: + <annotation>: the local path of the annotation of the genome + [default: genome annotation is downloaded from the site of the ucsc genome + browser and placed into the temporary directory of the sample.] + <sName>: Name of the sample being processed - defaults to prefix of <readsFile>. + <tmpDir>: Temporary directory - defaults to '/tmp'. + <outDir>: Output directory - defaults to '<pathToReadsFile>/enrichment'. + <poor>: Coverage cutoff to define poorly covered genes - defaults to 2. + <high>: Coverage cutoff to define highly covered genes - defaults to 200. + --no-details: Represses the computation of the evaluation details. + + +Output: +1. The HTML file contains a report of the target enrichment results including + tables of poorly and highly covered genes (defined by cutoffs <poor> and <high>. + For vizualisation, plots are embedded in this document. The contents of this report + are actually based on an evaluation of the XML and BED files. +2. The XML file contains the summary statistics for the enrichment performance. +3. The BED file contains detailed coverage information for each single region specified in + the input target file. +4. The WIG files (http://genome.ucsc.edu/goldenPath/help/wiggle.html) contain a per-base + description of the coverage on the target regions, one for the target regions specified in + the input target file and one for the whole genome (gaps are skipped). These files can be + used for visualization in a Genome Browser, e.g. at http://genome.ucsc.edu/cgi-bin/hgGateway. + + +--------------------------------------------------------------------------------------------------------- + + +Several enrichment performance reports can be summarized by the command NGSrich-summarize. +This should also be started from the bin directory of the software. + +Usage: java NGSrich summarize -r <inputIndexFile> -o <outDir> [ -p <poor> -h <high> ] + +Required arguments: + <inputIndexFile>: Text file with each line containing the output directory of + the report for one of the samples to be summarized. + <outDir>: Output directory. + +Optional arguments: + <poor>: Coverage cutoff to define poorly covered genes - defaults to 2. + <high>: Coverage cutoff to define highly covered genes - defaults to 200. + + +Output: +The HTML file contains a summary report and summarizing performance statistics for several +target enrichment experiments. For each sample, the detailed performance report can be +accessed by a hyperlink. + + +--------------------------------------------------------------------------------------------------------- + + +Requirements: +The NGSrich software runs only on 64-bit Linux. It requires an installation of R and the Java +Runtime Environment (JRE), which are preinstalled on most Linux distributions. If not, +please visit the official sites for detailed installation instructions. + + +Contact: +You can send an e-mail to the NGSrich mailing list at <NGSrich-users@lists.sourceforge.net>. +Please tell us your experiences with the software itself and the documentation. We particularly welcome new +bug reports and suggestions for new or enhanced features. +