1 | <tool id="hgv_funDo" name="FunDO" Version="1.0.0"> |
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2 | <description>human genes associated with disease terms</description> |
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3 | |
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4 | <command interpreter="perl"> |
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5 | disease_ontology_gene_fuzzy_selector.pl $build $out_file1 ${GALAXY_DATA_INDEX_DIR}/funDo.loc '$term' |
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6 | </command> |
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7 | |
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8 | <inputs> |
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9 | <param name="build" type="select" label="Database build"> |
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10 | <options from_file="funDo.loc"> |
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11 | <column name="name" index="0"/> |
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12 | <column name="value" index="0"/> |
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13 | <filter type="unique_value" column="0"/> |
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14 | </options> |
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15 | </param> |
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16 | <param name="term" size="40" type="text" label="Disease term(s)" /> |
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17 | </inputs> |
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18 | |
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19 | <outputs> |
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20 | <data format="interval" name="out_file1"> |
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21 | </data> |
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22 | </outputs> |
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23 | |
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24 | <tests> |
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25 | <test> |
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26 | <param name="term" value="lung"/> |
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27 | <param name="build" value="hg18"/> |
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28 | <output name="out_file1" file="funDo_output1.interval" /> |
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29 | </test> |
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30 | </tests> |
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31 | |
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32 | <help> |
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33 | **Dataset formats** |
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34 | |
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35 | There is no input dataset. The output is in interval_ format. |
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36 | |
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37 | .. _interval: ./static/formatHelp.html#interval |
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38 | |
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39 | ----- |
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40 | |
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41 | **What it does** |
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42 | |
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43 | This tool searches the disease-term field of the DOLite mappings |
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44 | used by the FunDO project and returns a set of genes that |
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45 | are associated with terms matching the specified pattern. (This is the |
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46 | reverse of what FunDO's own server does.) |
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47 | |
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48 | The search is case insensitive, and selects terms that contain any of |
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49 | the given words, either exactly or within a longer word (e.g. "nemia" |
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50 | selects not only "anemia", but also "hyperglycinemia", "tyrosinemias", |
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51 | and many other things). Multiple words should be separated by spaces, |
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52 | not commas. As a special case, entering the word "disease" returns all |
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53 | genes associated with any disease, even if that word does not actually |
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54 | appear in the term field. |
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55 | |
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56 | Website: http://django.nubic.northwestern.edu/fundo/ |
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57 | |
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58 | ----- |
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59 | |
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60 | **Example** |
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61 | |
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62 | Typing:: |
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63 | |
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64 | carcinoma |
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65 | |
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66 | results in:: |
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67 | |
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68 | 1. 2. 3. 4. 5. 6. 7. |
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69 | chr11 89507465 89565427 + NAALAD2 10003 Adenocarcinoma |
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70 | chr15 50189113 50192264 - BCL2L10 10017 Carcinoma |
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71 | chr7 150535855 150555250 - ABCF2 10061 Clear cell carcinoma |
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72 | chr7 150540508 150555250 - ABCF2 10061 Clear cell carcinoma |
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73 | chr10 134925911 134940397 - ADAM8 101 Adenocarcinoma |
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74 | chr10 134925911 134940397 - ADAM8 101 Adenocarcinoma |
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75 | etc. |
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76 | |
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77 | where the column contents are as follows:: |
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78 | |
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79 | 1. chromosome name |
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80 | 2. start position of the gene |
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81 | 3. end position of the gene |
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82 | 4. strand |
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83 | 4. gene name |
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84 | 6. Entrez Gene ID |
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85 | 7. disease term |
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86 | |
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87 | ----- |
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88 | |
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89 | **References** |
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90 | |
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91 | Du P, Feng G, Flatow J, Song J, Holko M, Kibbe WA, Lin SM. (2009) |
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92 | From disease ontology to disease-ontology lite: statistical methods to adapt a general-purpose |
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93 | ontology for the test of gene-ontology associations. |
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94 | Bioinformatics. 25(12):i63-8. |
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95 | |
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96 | Osborne JD, Flatow J, Holko M, Lin SM, Kibbe WA, Zhu LJ, Danila MI, Feng G, Chisholm RL. (2009) |
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97 | Annotating the human genome with Disease Ontology. |
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98 | BMC Genomics. 10 Suppl 1:S6. |
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99 | |
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100 | </help> |
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101 | </tool> |
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