Mercurial > repos > xuebing > sharplabtool
diff tools/human_genome_variation/ldtools.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/ldtools.xml Fri Mar 09 19:37:19 2012 -0500 @@ -0,0 +1,111 @@ +<tool id="hgv_ldtools" name="LD" version="1.0.0"> + <description>linkage disequilibrium and tag SNPs</description> + + <command interpreter="bash"> + ldtools_wrapper.sh rsquare=$rsquare freq=$freq input=$input output=$output + </command> + + <inputs> + <param format="tabular" name="input" type="data" label="Dataset"/> + <param name="rsquare" label="r<sup>2</sup> threshold" type="float" value="0.64"> + <validator type="in_range" message="rsquare must be in range [0.00, 1.00]" min="0.00" max="1.00" /> + </param> + <param name="freq" label="Minimum allele frequency threshold" type="float" value="0.00"> + <validator type="in_range" message="freq must be in range (0.00, 0.50]" min="0.00" max="0.50" /> + </param> + </inputs> + + <outputs> + <data format="tabular" name="output" /> + </outputs> + + <tests> + <test> + <param name="input" value="ldInput1.txt" /> + <param name="rsquare" value="0.64" /> + <param name="freq" value="0.00" /> + <output name="output" file="ldOutput1.txt" /> + </test> + </tests> + + <help> +**Dataset formats** + +The input and output datasets are tabular_. +(`Dataset missing?`_) + +.. _tabular: ./static/formatHelp.html#tab +.. _Dataset missing?: ./static/formatHelp.html + +----- + +**What it does** + +This tool can be used to analyze the patterns of linkage disequilibrium +(LD) between polymorphic sites in a locus. SNPs are grouped based on the +threshold level of LD as measured by r\ :sup:`2` (regardless of genomic +position), and a representative "tag SNP" is reported for each group. +The other SNPs in the group are in LD with the tag SNP, but not necessarily +with each other. + +The underlying algorithm is the same as the one used in ldSelect (Carlson +et al. 2004). However, this tool is implemented to be much faster and more +efficient than ldSelect. + +The input is a tabular file with genotype information for each individual +at each SNP site, in exactly four columns: site ID, sample ID, and the +two allele nucleotides. + +----- + +**Example** + +- input file:: + + rs2334386 NA20364 G T + rs2334386 NA20363 G G + rs2334386 NA20360 G G + rs2334386 NA20359 G G + rs2334386 NA20358 G G + rs2334386 NA20356 G G + rs2334386 NA20357 G G + rs2334386 NA20350 G G + rs2334386 NA20349 G G + rs2334386 NA20348 G G + rs2334386 NA20347 G G + rs2334386 NA20346 G G + rs2334386 NA20345 G G + rs2334386 NA20344 G G + rs2334386 NA20342 G G + etc. + +- output file:: + + rs2238748 rs2793064,rs6518516,rs6518517,rs2283641,rs5993533,rs715590,rs2072123,rs2105421,rs2800954,rs1557847,rs807750,rs807753,rs5993488,rs8138035,rs2800980,rs2525079,rs5992353,rs712966,rs2525036,rs807743,rs1034727,rs807744,rs2074003 + rs2871023 rs1210715,rs1210711,rs5748189,rs1210709,rs3788298,rs7284649,rs9306217,rs9604954,rs1210703,rs5748179,rs5746727,rs5748190,rs5993603,rs2238766,rs885981,rs2238763,rs5748165,rs9605996,rs9606001,rs5992398 + rs7292006 rs13447232,rs5993665,rs2073733,rs1057457,rs756658,rs5992395,rs2073760,rs739369,rs9606017,rs739370,rs4493360,rs2073736 + rs2518840 rs1061325,rs2283646,rs362148,rs1340958,rs361956,rs361991,rs2073754,rs2040771,rs2073740,rs2282684 + rs2073775 rs10160,rs2800981,rs807751,rs5993492,rs2189490,rs5747997,rs2238743 + rs5747263 rs12159924,rs2300688,rs4239846,rs3747025,rs3747024,rs3747023,rs2300691 + rs433576 rs9605439,rs1109052,rs400509,rs401099,rs396012,rs410456,rs385105 + rs2106145 rs5748131,rs2013516,rs1210684,rs1210685,rs2238767,rs2277837 + rs2587082 rs2257083,rs2109659,rs2587081,rs5747306,rs2535704,rs2535694 + rs807667 rs2800974,rs756651,rs762523,rs2800973,rs1018764 + rs2518866 rs1206542,rs807467,rs807464,rs807462,rs712950 + rs1110661 rs1110660,rs7286607,rs1110659,rs5992917,rs1110662 + rs759076 rs5748760,rs5748755,rs5748752,rs4819925,rs933461 + rs5746487 rs5992895,rs2034113,rs2075455,rs1867353 + rs5748212 rs5746736,rs4141527,rs5748147,rs5748202 + etc. + +----- + +**Reference** + +Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. (2004) +Selecting a maximally informative set of single-nucleotide polymorphisms for +association analyses using linkage disequilibrium. +Am J Hum Genet. 74(1):106-20. Epub 2003 Dec 15. + + </help> +</tool>