Mercurial > repos > iuc > bcftools_plugin_mendelian
annotate bcftools_plugin_mendelian.xml @ 25:6294f7c049f0 draft default tip
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
| author | iuc |
|---|---|
| date | Tue, 02 Dec 2025 07:50:43 +0000 |
| parents | 2776dd881da8 |
| children |
| rev | line source |
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e5c156768764
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit db275932cbb485cb44ae91e0b421d6f57698db49
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1 <tool name="bcftools @EXECUTABLE@" id="bcftools_plugin_@PLUGIN_ID@" version="@TOOL_VERSION@+galaxy@VERSION_SUFFIX@" profile="@PROFILE@"> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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2 <description>plugin Count Mendelian consistent / inconsistent genotypes</description> |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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3 <macros> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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4 <token name="@EXECUTABLE@">mendelian2</token> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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5 <token name="@PLUGIN_ID@">mendelian</token> |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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6 <import>macros.xml</import> |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
iuc
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7 </macros> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
iuc
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8 <expand macro="bio_tools" /> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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9 <expand macro="requirements" /> |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
iuc
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10 <expand macro="version_command" /> |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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11 <command detect_errors="aggressive"><![CDATA[ |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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12 @PREPARE_INPUT_FILE@ |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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13 #set $section = $sec_restrict |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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14 @PREPARE_TARGETS_FILE@ |
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8fa5f4cf9797
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit 10853682ffb2e9776256bb63c899ef5c5fe0007e
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15 @PREPARE_REGIONS_FILE@ |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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16 |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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17 bcftools plugin @EXECUTABLE@ |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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18 |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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19 ## VCF input section |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
iuc
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20 #set $section = $sec_restrict |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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21 @INCLUDE@ |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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22 @EXCLUDE@ |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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23 @REGIONS@ |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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24 @TARGETS@ |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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25 |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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26 @OUTPUT_TYPE@ |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
iuc
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27 |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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28 ## Primary Input/Outputs |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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29 @INPUT_FILE@ |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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30 |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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31 ## Plugin section |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
iuc
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32 #set $section = $sec_plugin |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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33 #if $section.trios.trios_src == 'trio': |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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34 --pfm '${section.trios.num_x}:${section.trios.child},${section.trios.mother},${section.trios.father}' |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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35 #elif $section.trios.trios_src == 'trio_file': |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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36 --ped '$section.trios.trio_file' |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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37 #end if |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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38 #set $modes = "".join(str($section.mode).split(',')) |
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6294f7c049f0
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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39 -m $modes |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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40 2> tmp_stderr |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit 10853682ffb2e9776256bb63c899ef5c5fe0007e
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41 > '$output_file' |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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42 && cat tmp_stderr |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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43 ]]> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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44 </command> |
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00fef0e241d3
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45 <inputs> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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46 <expand macro="macro_input" /> |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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47 <section name="sec_restrict" expanded="false" title="Restrict to"> |
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48 <expand macro="macro_region_restrict" /> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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49 <expand macro="macro_target_restrict" /> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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50 <expand macro="macro_include" /> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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51 <expand macro="macro_exclude" /> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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52 </section> |
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53 <section name="sec_plugin" expanded="true" title="Plugin Options"> |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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54 <!-- trios --> |
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00fef0e241d3
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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55 <conditional name="trios"> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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56 <param name="trios_src" type="select" label="Sample relationship"> |
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57 <option value="trio">trio - mother,father,child (--pfm)</option> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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58 <option value="trio_file">trios file - specify 1 or more trios in PED format (--ped)</option> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/bcftools commit ef90c4602bdb83ea7455946c9d175ea27284e643
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59 </param> |
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00fef0e241d3
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60 <when value="trio"> |
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61 <param name="mother" type="text" value="" label="Mother sample name (as it appears in the input)"/> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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62 <param name="father" type="text" value="" label="Father sample name (as it appears in the input)"/> |
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6294f7c049f0
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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63 <param name="child" type="text" value="" label="Child sample name (as it appears in the input)"/> |
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6294f7c049f0
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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64 <param name="num_x" type="boolean" truevalue="1X" falsevalue="2X" label="Male child?" help="This information is used to judge inheritance patterns of X-chromosomal mutations correctly."/> |
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65 </when> |
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66 <when value="trio_file"> |
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67 <param name="trio_file" type="data" format="tabular" label="Sample information in PED format" help="This input dataset can describe one or several family trios. See the tool help below for more information on PED format." /> |
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68 </when> |
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69 </conditional> |
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70 <param name="mode" type="select" multiple="true" optional="false" label="Output mode" help="Output mode. Multiple modes can be combined and the drop modes take precedence."> |
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71 <option value="a" selected="true">add INFO -> MERR annotation with the number of inconsistent trios (a)</option> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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72 <option value="d">delete (i.e., set to "./.") genotypes in inconsistent trios (d)</option> |
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6294f7c049f0
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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73 <option value="e">output sites with at least one erroneous trio (e)</option> |
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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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74 <option value="E">drop sites with at least one erroneous trio (E)</option> |
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75 <option value="g">output sites with at least one good (i.e. with non-missing and consistent genotypes) trio (g)</option> |
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76 <option value="m">output sites with missing genotypes in at least one trio (m)</option> |
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6294f7c049f0
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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77 <option value="M">drop sites with missing genotypes in at least one trio (M)</option> |
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6294f7c049f0
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/bcftools commit f6efda26965eb73c9107d367fd5ffdf246ed0dbc
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78 <option value="S">drop sites skipped for various reasons when collecting stats (S)</option> |
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79 </param> |
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80 </section> |
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81 <expand macro="macro_select_output_type" /> |
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82 </inputs> |
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83 <outputs> |
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84 <expand macro="macro_vcf_output" /> |
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85 </outputs> |
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86 <tests> |
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87 <test> |
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88 <!-- This is just a test on a random file, should have a real test case --> |
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89 <param name="input_file" ftype="vcf" value="convert.vcf" /> |
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90 <section name="sec_plugin"> |
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91 <conditional name="trios"> |
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92 <param name="trios_src" value="trio" /> |
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93 <param name="mother" value="NA00001" /> |
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94 <param name="father" value="NA00002" /> |
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95 <param name="child" value="NA00006" /> |
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96 </conditional> |
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97 <param name="mode" value="d" /> |
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98 </section> |
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99 <param name="output_type" value="v" /> |
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100 <output name="output_file"> |
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101 <assert_contents> |
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5
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102 <has_text_matching expression="X\t2698769\t.\tAAG\tA\t999\t.\t.\tGT:PL:GP\t./."/> |
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103 </assert_contents> |
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104 </output> |
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105 </test> |
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106 <test> |
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107 <!-- This is just a test on a random file, should have a real test case --> |
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108 <param name="input_file" ftype="vcf" value="convert.vcf" /> |
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109 <section name="sec_plugin"> |
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110 <conditional name="trios"> |
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111 <param name="trios_src" value="trio" /> |
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112 <param name="mother" value="NA00001" /> |
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113 <param name="father" value="NA00002" /> |
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114 <param name="child" value="NA00006" /> |
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115 </conditional> |
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116 <param name="mode" value="e" /> |
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117 </section> |
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118 <param name="output_type" value="v" /> |
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119 <output name="output_file"> |
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120 <assert_contents> |
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121 <not_has_text text="2698758" /> |
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122 <has_text text="2698769" /> |
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123 </assert_contents> |
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124 </output> |
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125 </test> |
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126 </tests> |
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127 |
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128 <help><![CDATA[ |
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129 ===================================== |
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130 bcftools @EXECUTABLE@ plugin |
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131 ===================================== |
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132 |
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133 |
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134 Describing sample relationships (family trios) in PED format |
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135 ------------------------------------------------------------ |
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136 |
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137 A PED file is simply a tabular text file (columns can be separated by either |
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138 spaces or TABs, but not a mixture of the two within the same file) with the |
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139 header:: |
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140 |
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141 #family_id name paternal_id maternal_id sex |
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142 |
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143 and optional additional columns. The actual column names in the header are not |
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144 fixed, but there have to be at least six columns that are interpreted as |
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145 detailed next. |
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146 |
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147 Subsequent lines describe one sample from the VCF input dataset each, where |
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148 |
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149 - *family_id* is an alphanumeric identifier of a family |
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150 |
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151 This column has to be present, but is ignored by this plugin |
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152 |
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153 - *name* is the identifier of the sample described by the line |
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154 |
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155 - *paternal_id* is the identifier of the sample's father |
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156 |
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157 - *maternal_id* is the identifier of the sample's mother |
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158 |
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159 - *sex* is a numeric code (1=male, 2=female) for the sample's sex |
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160 |
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161 An example minimal PED file describing a single family-trio with a female child could look like this:: |
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162 |
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163 #family_id name paternal_id maternal_id sex |
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164 0 NA00001 0 0 1 |
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165 0 NA00002 0 0 2 |
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166 0 NA00003 NA00001 NA00002 2 |
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167 |
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168 where 0 is used as a placeholder for the paternal_id/maternal_id values in the records of the father and mother. |
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169 |
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170 @REGIONS_HELP@ |
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171 @TARGETS_HELP@ |
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172 @EXPRESSIONS_HELP@ |
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173 |
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174 ]]></help> |
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175 <expand macro="citations" /> |
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176 </tool> |
