Mercurial > repos > xuebing > sharplabtool
diff tools/human_genome_variation/snpFreq.xml @ 0:9071e359b9a3
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author | xuebing |
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date | Fri, 09 Mar 2012 19:37:19 -0500 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tools/human_genome_variation/snpFreq.xml Fri Mar 09 19:37:19 2012 -0500 @@ -0,0 +1,104 @@ +<tool id="hgv_snpFreq" name="snpFreq" version="1.0.0"> + <description>significant SNPs in case-control data</description> + + <command interpreter="perl"> + snpFreq2.pl $input $group1_1 $group1_2 $group1_3 $group2_1 $group2_2 $group2_3 0.05 $output + </command> + + <inputs> + <param format="tabular" name="input" type="data" label="Dataset" /> + <param name="group1_1" label="Column with genotype 1 count for group 1" type="data_column" data_ref="input" /> + <param name="group1_2" label="Column with genotype 2 count for group 1" type="data_column" data_ref="input" /> + <param name="group1_3" label="Column with genotype 3 count for group 1" type="data_column" data_ref="input" /> + <param name="group2_1" label="Column with genotype 1 count for group 2" type="data_column" data_ref="input" /> + <param name="group2_2" label="Column with genotype 2 count for group 2" type="data_column" data_ref="input" /> + <param name="group2_3" label="Column with genotype 3 count for group 2" type="data_column" data_ref="input" /> + </inputs> + + <outputs> + <data format="tabular" name="output" /> + </outputs> + + <requirements> + <requirement type="binary">R</requirement> + </requirements> + + <tests> + <test> + <param name="input" ftype="tabular" value="snpFreqInput.txt" dbkey="hg18" /> + <param name="group1_1" value="4" /> + <param name="group1_2" value="5" /> + <param name="group1_3" value="6" /> + <param name="group2_1" value="7" /> + <param name="group2_2" value="8" /> + <param name="group2_3" value="9" /> + <output name="output" file="snpFreqTestOut.txt" /> + </test> + </tests> + + <help> + +**Dataset formats** + +The input is tabular_, with six columns of allele counts. The output is also tabular, +and includes all of the input data plus the additional columns described below. +(`Dataset missing?`_) + +.. _tabular: ./static/formatHelp.html#tab +.. _Dataset missing?: ./static/formatHelp.html + +----- + +**What it does** + +This tool performs a basic analysis of bi-allelic SNPs in case-control +data, using the R statistical environment and Fisher's exact test to +identify SNPs with a significant difference in the allele frequencies +between the two groups. R's "qvalue" package is used to correct for +multiple testing. + +The input file includes counts for each allele combination (AA aa Aa) +for each group at each SNP position. The assignment of codes (1 2 3) +to these genotypes is arbitrary, as long as it is consistent for both +groups. Any other input columns are ignored in the computation, but +are copied to the output. The output appends eight additional columns, +namely the minimum expected counts of the three genotypes for each +group, the p-value, and the q-value. + +----- + +**Example** + +- input file:: + + chr1 210 211 38 4 15 56 0 1 x + chr1 228 229 55 0 2 56 0 1 x + chr1 230 231 46 0 11 55 0 2 x + chr1 234 235 43 0 14 55 0 2 x + chr1 236 237 55 0 2 13 10 34 x + chr1 437 438 55 0 2 46 0 11 x + chr1 439 440 56 0 1 55 0 2 x + chr1 449 450 56 0 1 13 20 24 x + chr1 518 519 56 0 1 38 4 15 x + +Here the group 1 genotype counts are in columns 4 - 6, while those +for group 2 are in columns 7 - 9. + +Note that the "x" column has no meaning. It was added to this example +to show that extra columns can be included, and to make it easier +to see where the new columns are appended in the output. + +- output file:: + + chr1 210 211 38 4 15 56 0 1 x 47 2 8 47 2 8 1.50219088598917e-05 6.32501425679652e-06 + chr1 228 229 55 0 2 56 0 1 x 55.5 0 1.5 55.5 0 1.5 1 0.210526315789474 + chr1 230 231 46 0 11 55 0 2 x 50.5 0 6.5 50.5 0 6.5 0.0155644201009862 0.00409590002657532 + chr1 234 235 43 0 14 55 0 2 x 49 0 8 49 0 8 0.00210854461554067 0.000739840215979182 + chr1 236 237 55 0 2 13 10 34 x 34 5 18 34 5 18 6.14613878554783e-17 4.31307984950725e-17 + chr1 437 438 55 0 2 46 0 11 x 50.5 0 6.5 50.5 0 6.5 0.0155644201009862 0.00409590002657532 + chr1 439 440 56 0 1 55 0 2 x 55.5 0 1.5 55.5 0 1.5 1 0.210526315789474 + chr1 449 450 56 0 1 13 20 24 x 34.5 10 12.5 34.5 10 12.5 2.25757007974134e-18 2.37638955762246e-18 + chr1 518 519 56 0 1 38 4 15 x 47 2 8 47 2 8 1.50219088598917e-05 6.32501425679652e-06 + + </help> +</tool>