ngs_server 0.1 → 0.2

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Files changed (248) hide show
  1. data/bin/ngs_server +72 -50
  2. data/ext/bamtools/extconf.rb +3 -3
  3. data/ext/vcftools/Makefile +28 -0
  4. data/ext/vcftools/README.txt +36 -0
  5. data/ext/vcftools/cpp/.svn/all-wcprops +125 -0
  6. data/ext/vcftools/cpp/.svn/dir-prop-base +6 -0
  7. data/ext/vcftools/cpp/.svn/entries +708 -0
  8. data/ext/vcftools/cpp/.svn/text-base/Makefile.svn-base +46 -0
  9. data/ext/vcftools/cpp/.svn/text-base/dgeev.cpp.svn-base +146 -0
  10. data/ext/vcftools/cpp/.svn/text-base/dgeev.h.svn-base +43 -0
  11. data/ext/vcftools/cpp/.svn/text-base/output_log.cpp.svn-base +79 -0
  12. data/ext/vcftools/cpp/.svn/text-base/output_log.h.svn-base +34 -0
  13. data/ext/vcftools/cpp/.svn/text-base/parameters.cpp.svn-base +535 -0
  14. data/ext/vcftools/cpp/.svn/text-base/parameters.h.svn-base +154 -0
  15. data/ext/vcftools/cpp/.svn/text-base/vcf_entry.cpp.svn-base +497 -0
  16. data/ext/vcftools/cpp/.svn/text-base/vcf_entry.h.svn-base +190 -0
  17. data/ext/vcftools/cpp/.svn/text-base/vcf_entry_getters.cpp.svn-base +421 -0
  18. data/ext/vcftools/cpp/.svn/text-base/vcf_entry_setters.cpp.svn-base +482 -0
  19. data/ext/vcftools/cpp/.svn/text-base/vcf_file.cpp.svn-base +495 -0
  20. data/ext/vcftools/cpp/.svn/text-base/vcf_file.h.svn-base +184 -0
  21. data/ext/vcftools/cpp/.svn/text-base/vcf_file_diff.cpp.svn-base +1282 -0
  22. data/ext/vcftools/cpp/.svn/text-base/vcf_file_filters.cpp.svn-base +1215 -0
  23. data/ext/vcftools/cpp/.svn/text-base/vcf_file_format_convert.cpp.svn-base +1138 -0
  24. data/ext/vcftools/cpp/.svn/text-base/vcf_file_index.cpp.svn-base +171 -0
  25. data/ext/vcftools/cpp/.svn/text-base/vcf_file_output.cpp.svn-base +3012 -0
  26. data/ext/vcftools/cpp/.svn/text-base/vcftools.cpp.svn-base +107 -0
  27. data/ext/vcftools/cpp/.svn/text-base/vcftools.h.svn-base +25 -0
  28. data/ext/vcftools/cpp/Makefile +46 -0
  29. data/ext/vcftools/cpp/dgeev.cpp +146 -0
  30. data/ext/vcftools/cpp/dgeev.h +43 -0
  31. data/ext/vcftools/cpp/output_log.cpp +79 -0
  32. data/ext/vcftools/cpp/output_log.h +34 -0
  33. data/ext/vcftools/cpp/parameters.cpp +535 -0
  34. data/ext/vcftools/cpp/parameters.h +154 -0
  35. data/ext/vcftools/cpp/vcf_entry.cpp +497 -0
  36. data/ext/vcftools/cpp/vcf_entry.h +190 -0
  37. data/ext/vcftools/cpp/vcf_entry_getters.cpp +421 -0
  38. data/ext/vcftools/cpp/vcf_entry_setters.cpp +482 -0
  39. data/ext/vcftools/cpp/vcf_file.cpp +495 -0
  40. data/ext/vcftools/cpp/vcf_file.h +184 -0
  41. data/ext/vcftools/cpp/vcf_file_diff.cpp +1282 -0
  42. data/ext/vcftools/cpp/vcf_file_filters.cpp +1215 -0
  43. data/ext/vcftools/cpp/vcf_file_format_convert.cpp +1138 -0
  44. data/ext/vcftools/cpp/vcf_file_index.cpp +171 -0
  45. data/ext/vcftools/cpp/vcf_file_output.cpp +3012 -0
  46. data/ext/vcftools/cpp/vcftools.cpp +107 -0
  47. data/ext/vcftools/cpp/vcftools.h +25 -0
  48. data/ext/vcftools/examples/.svn/all-wcprops +185 -0
  49. data/ext/vcftools/examples/.svn/dir-prop-base +6 -0
  50. data/ext/vcftools/examples/.svn/entries +1048 -0
  51. data/ext/vcftools/examples/.svn/prop-base/perl-api-1.pl.svn-base +5 -0
  52. data/ext/vcftools/examples/.svn/text-base/annotate-test.vcf.svn-base +37 -0
  53. data/ext/vcftools/examples/.svn/text-base/annotate.out.svn-base +23 -0
  54. data/ext/vcftools/examples/.svn/text-base/annotate.txt.svn-base +7 -0
  55. data/ext/vcftools/examples/.svn/text-base/annotate2.out.svn-base +52 -0
  56. data/ext/vcftools/examples/.svn/text-base/annotate3.out.svn-base +23 -0
  57. data/ext/vcftools/examples/.svn/text-base/cmp-test-a-3.3.vcf.svn-base +12 -0
  58. data/ext/vcftools/examples/.svn/text-base/cmp-test-a.vcf.svn-base +12 -0
  59. data/ext/vcftools/examples/.svn/text-base/cmp-test-b-3.3.vcf.svn-base +12 -0
  60. data/ext/vcftools/examples/.svn/text-base/cmp-test-b.vcf.svn-base +12 -0
  61. data/ext/vcftools/examples/.svn/text-base/cmp-test.out.svn-base +53 -0
  62. data/ext/vcftools/examples/.svn/text-base/concat-a.vcf.svn-base +21 -0
  63. data/ext/vcftools/examples/.svn/text-base/concat-b.vcf.svn-base +13 -0
  64. data/ext/vcftools/examples/.svn/text-base/concat-c.vcf.svn-base +19 -0
  65. data/ext/vcftools/examples/.svn/text-base/concat.out.svn-base +39 -0
  66. data/ext/vcftools/examples/.svn/text-base/invalid-4.0.vcf.svn-base +31 -0
  67. data/ext/vcftools/examples/.svn/text-base/isec-n2-test.vcf.out.svn-base +19 -0
  68. data/ext/vcftools/examples/.svn/text-base/merge-test-a.vcf.svn-base +17 -0
  69. data/ext/vcftools/examples/.svn/text-base/merge-test-b.vcf.svn-base +17 -0
  70. data/ext/vcftools/examples/.svn/text-base/merge-test-c.vcf.svn-base +15 -0
  71. data/ext/vcftools/examples/.svn/text-base/merge-test.vcf.out.svn-base +31 -0
  72. data/ext/vcftools/examples/.svn/text-base/perl-api-1.pl.svn-base +46 -0
  73. data/ext/vcftools/examples/.svn/text-base/query-test.out.svn-base +6 -0
  74. data/ext/vcftools/examples/.svn/text-base/shuffle-test.vcf.svn-base +12 -0
  75. data/ext/vcftools/examples/.svn/text-base/subset.SNPs.out.svn-base +10 -0
  76. data/ext/vcftools/examples/.svn/text-base/subset.indels.out.svn-base +18 -0
  77. data/ext/vcftools/examples/.svn/text-base/subset.vcf.svn-base +21 -0
  78. data/ext/vcftools/examples/.svn/text-base/valid-3.3.vcf.svn-base +30 -0
  79. data/ext/vcftools/examples/.svn/text-base/valid-4.0.vcf.stats.svn-base +104 -0
  80. data/ext/vcftools/examples/.svn/text-base/valid-4.0.vcf.svn-base +34 -0
  81. data/ext/vcftools/examples/.svn/text-base/valid-4.1.vcf.svn-base +37 -0
  82. data/ext/vcftools/examples/annotate-test.vcf +37 -0
  83. data/ext/vcftools/examples/annotate.out +23 -0
  84. data/ext/vcftools/examples/annotate.txt +7 -0
  85. data/ext/vcftools/examples/annotate2.out +52 -0
  86. data/ext/vcftools/examples/annotate3.out +23 -0
  87. data/ext/vcftools/examples/cmp-test-a-3.3.vcf +12 -0
  88. data/ext/vcftools/examples/cmp-test-a.vcf +12 -0
  89. data/ext/vcftools/examples/cmp-test-b-3.3.vcf +12 -0
  90. data/ext/vcftools/examples/cmp-test-b.vcf +12 -0
  91. data/ext/vcftools/examples/cmp-test.out +53 -0
  92. data/ext/vcftools/examples/concat-a.vcf +21 -0
  93. data/ext/vcftools/examples/concat-b.vcf +13 -0
  94. data/ext/vcftools/examples/concat-c.vcf +19 -0
  95. data/ext/vcftools/examples/concat.out +39 -0
  96. data/ext/vcftools/examples/invalid-4.0.vcf +31 -0
  97. data/ext/vcftools/examples/isec-n2-test.vcf.out +19 -0
  98. data/ext/vcftools/examples/merge-test-a.vcf +17 -0
  99. data/ext/vcftools/examples/merge-test-b.vcf +17 -0
  100. data/ext/vcftools/examples/merge-test-c.vcf +15 -0
  101. data/ext/vcftools/examples/merge-test.vcf.out +31 -0
  102. data/ext/vcftools/examples/perl-api-1.pl +46 -0
  103. data/ext/vcftools/examples/query-test.out +6 -0
  104. data/ext/vcftools/examples/shuffle-test.vcf +12 -0
  105. data/ext/vcftools/examples/subset.SNPs.out +10 -0
  106. data/ext/vcftools/examples/subset.indels.out +18 -0
  107. data/ext/vcftools/examples/subset.vcf +21 -0
  108. data/ext/vcftools/examples/valid-3.3.vcf +30 -0
  109. data/ext/vcftools/examples/valid-4.0.vcf +34 -0
  110. data/ext/vcftools/examples/valid-4.0.vcf.stats +104 -0
  111. data/ext/vcftools/examples/valid-4.1.vcf +37 -0
  112. data/ext/vcftools/extconf.rb +2 -0
  113. data/ext/vcftools/perl/.svn/all-wcprops +149 -0
  114. data/ext/vcftools/perl/.svn/entries +844 -0
  115. data/ext/vcftools/perl/.svn/prop-base/fill-aa.svn-base +5 -0
  116. data/ext/vcftools/perl/.svn/prop-base/fill-an-ac.svn-base +5 -0
  117. data/ext/vcftools/perl/.svn/prop-base/fill-ref-md5.svn-base +5 -0
  118. data/ext/vcftools/perl/.svn/prop-base/tab-to-vcf.svn-base +5 -0
  119. data/ext/vcftools/perl/.svn/prop-base/test.t.svn-base +5 -0
  120. data/ext/vcftools/perl/.svn/prop-base/vcf-annotate.svn-base +5 -0
  121. data/ext/vcftools/perl/.svn/prop-base/vcf-compare.svn-base +5 -0
  122. data/ext/vcftools/perl/.svn/prop-base/vcf-concat.svn-base +5 -0
  123. data/ext/vcftools/perl/.svn/prop-base/vcf-convert.svn-base +5 -0
  124. data/ext/vcftools/perl/.svn/prop-base/vcf-fix-newlines.svn-base +5 -0
  125. data/ext/vcftools/perl/.svn/prop-base/vcf-isec.svn-base +5 -0
  126. data/ext/vcftools/perl/.svn/prop-base/vcf-merge.svn-base +5 -0
  127. data/ext/vcftools/perl/.svn/prop-base/vcf-query.svn-base +5 -0
  128. data/ext/vcftools/perl/.svn/prop-base/vcf-shuffle-cols.svn-base +5 -0
  129. data/ext/vcftools/perl/.svn/prop-base/vcf-sort.svn-base +5 -0
  130. data/ext/vcftools/perl/.svn/prop-base/vcf-stats.svn-base +5 -0
  131. data/ext/vcftools/perl/.svn/prop-base/vcf-subset.svn-base +5 -0
  132. data/ext/vcftools/perl/.svn/prop-base/vcf-to-tab.svn-base +5 -0
  133. data/ext/vcftools/perl/.svn/prop-base/vcf-validator.svn-base +5 -0
  134. data/ext/vcftools/perl/.svn/text-base/ChangeLog.svn-base +84 -0
  135. data/ext/vcftools/perl/.svn/text-base/FaSlice.pm.svn-base +214 -0
  136. data/ext/vcftools/perl/.svn/text-base/Makefile.svn-base +12 -0
  137. data/ext/vcftools/perl/.svn/text-base/Vcf.pm.svn-base +2853 -0
  138. data/ext/vcftools/perl/.svn/text-base/VcfStats.pm.svn-base +681 -0
  139. data/ext/vcftools/perl/.svn/text-base/fill-aa.svn-base +103 -0
  140. data/ext/vcftools/perl/.svn/text-base/fill-an-ac.svn-base +56 -0
  141. data/ext/vcftools/perl/.svn/text-base/fill-ref-md5.svn-base +204 -0
  142. data/ext/vcftools/perl/.svn/text-base/tab-to-vcf.svn-base +92 -0
  143. data/ext/vcftools/perl/.svn/text-base/test.t.svn-base +376 -0
  144. data/ext/vcftools/perl/.svn/text-base/vcf-annotate.svn-base +1099 -0
  145. data/ext/vcftools/perl/.svn/text-base/vcf-compare.svn-base +1193 -0
  146. data/ext/vcftools/perl/.svn/text-base/vcf-concat.svn-base +310 -0
  147. data/ext/vcftools/perl/.svn/text-base/vcf-convert.svn-base +180 -0
  148. data/ext/vcftools/perl/.svn/text-base/vcf-fix-newlines.svn-base +97 -0
  149. data/ext/vcftools/perl/.svn/text-base/vcf-isec.svn-base +660 -0
  150. data/ext/vcftools/perl/.svn/text-base/vcf-merge.svn-base +577 -0
  151. data/ext/vcftools/perl/.svn/text-base/vcf-query.svn-base +272 -0
  152. data/ext/vcftools/perl/.svn/text-base/vcf-shuffle-cols.svn-base +89 -0
  153. data/ext/vcftools/perl/.svn/text-base/vcf-sort.svn-base +79 -0
  154. data/ext/vcftools/perl/.svn/text-base/vcf-stats.svn-base +160 -0
  155. data/ext/vcftools/perl/.svn/text-base/vcf-subset.svn-base +206 -0
  156. data/ext/vcftools/perl/.svn/text-base/vcf-to-tab.svn-base +112 -0
  157. data/ext/vcftools/perl/.svn/text-base/vcf-validator.svn-base +145 -0
  158. data/ext/vcftools/perl/ChangeLog +84 -0
  159. data/ext/vcftools/perl/FaSlice.pm +214 -0
  160. data/ext/vcftools/perl/Makefile +12 -0
  161. data/ext/vcftools/perl/Vcf.pm +2853 -0
  162. data/ext/vcftools/perl/VcfStats.pm +681 -0
  163. data/ext/vcftools/perl/fill-aa +103 -0
  164. data/ext/vcftools/perl/fill-an-ac +56 -0
  165. data/ext/vcftools/perl/fill-ref-md5 +204 -0
  166. data/ext/vcftools/perl/tab-to-vcf +92 -0
  167. data/ext/vcftools/perl/test.t +376 -0
  168. data/ext/vcftools/perl/vcf-annotate +1099 -0
  169. data/ext/vcftools/perl/vcf-compare +1193 -0
  170. data/ext/vcftools/perl/vcf-concat +310 -0
  171. data/ext/vcftools/perl/vcf-convert +180 -0
  172. data/ext/vcftools/perl/vcf-fix-newlines +97 -0
  173. data/ext/vcftools/perl/vcf-isec +660 -0
  174. data/ext/vcftools/perl/vcf-merge +577 -0
  175. data/ext/vcftools/perl/vcf-query +286 -0
  176. data/ext/vcftools/perl/vcf-shuffle-cols +89 -0
  177. data/ext/vcftools/perl/vcf-sort +79 -0
  178. data/ext/vcftools/perl/vcf-stats +160 -0
  179. data/ext/vcftools/perl/vcf-subset +206 -0
  180. data/ext/vcftools/perl/vcf-to-tab +112 -0
  181. data/ext/vcftools/perl/vcf-validator +145 -0
  182. data/ext/vcftools/website/.svn/all-wcprops +41 -0
  183. data/ext/vcftools/website/.svn/entries +238 -0
  184. data/ext/vcftools/website/.svn/prop-base/VCF-poster.pdf.svn-base +5 -0
  185. data/ext/vcftools/website/.svn/prop-base/favicon.ico.svn-base +5 -0
  186. data/ext/vcftools/website/.svn/prop-base/favicon.png.svn-base +5 -0
  187. data/ext/vcftools/website/.svn/text-base/Makefile.svn-base +6 -0
  188. data/ext/vcftools/website/.svn/text-base/README.svn-base +2 -0
  189. data/ext/vcftools/website/.svn/text-base/VCF-poster.pdf.svn-base +0 -0
  190. data/ext/vcftools/website/.svn/text-base/default.css.svn-base +250 -0
  191. data/ext/vcftools/website/.svn/text-base/favicon.ico.svn-base +0 -0
  192. data/ext/vcftools/website/.svn/text-base/favicon.png.svn-base +0 -0
  193. data/ext/vcftools/website/Makefile +6 -0
  194. data/ext/vcftools/website/README +2 -0
  195. data/ext/vcftools/website/VCF-poster.pdf +0 -0
  196. data/ext/vcftools/website/default.css +250 -0
  197. data/ext/vcftools/website/favicon.ico +0 -0
  198. data/ext/vcftools/website/favicon.png +0 -0
  199. data/ext/vcftools/website/img/.svn/all-wcprops +53 -0
  200. data/ext/vcftools/website/img/.svn/entries +300 -0
  201. data/ext/vcftools/website/img/.svn/prop-base/bg.gif.svn-base +5 -0
  202. data/ext/vcftools/website/img/.svn/prop-base/bgcode.gif.svn-base +5 -0
  203. data/ext/vcftools/website/img/.svn/prop-base/bgcontainer.gif.svn-base +5 -0
  204. data/ext/vcftools/website/img/.svn/prop-base/bgul.gif.svn-base +5 -0
  205. data/ext/vcftools/website/img/.svn/prop-base/header.gif.svn-base +5 -0
  206. data/ext/vcftools/website/img/.svn/prop-base/li.gif.svn-base +5 -0
  207. data/ext/vcftools/website/img/.svn/prop-base/quote.gif.svn-base +5 -0
  208. data/ext/vcftools/website/img/.svn/prop-base/search.gif.svn-base +5 -0
  209. data/ext/vcftools/website/img/.svn/text-base/bg.gif.svn-base +0 -0
  210. data/ext/vcftools/website/img/.svn/text-base/bgcode.gif.svn-base +0 -0
  211. data/ext/vcftools/website/img/.svn/text-base/bgcontainer.gif.svn-base +0 -0
  212. data/ext/vcftools/website/img/.svn/text-base/bgul.gif.svn-base +0 -0
  213. data/ext/vcftools/website/img/.svn/text-base/header.gif.svn-base +0 -0
  214. data/ext/vcftools/website/img/.svn/text-base/li.gif.svn-base +0 -0
  215. data/ext/vcftools/website/img/.svn/text-base/quote.gif.svn-base +0 -0
  216. data/ext/vcftools/website/img/.svn/text-base/search.gif.svn-base +0 -0
  217. data/ext/vcftools/website/img/bg.gif +0 -0
  218. data/ext/vcftools/website/img/bgcode.gif +0 -0
  219. data/ext/vcftools/website/img/bgcontainer.gif +0 -0
  220. data/ext/vcftools/website/img/bgul.gif +0 -0
  221. data/ext/vcftools/website/img/header.gif +0 -0
  222. data/ext/vcftools/website/img/li.gif +0 -0
  223. data/ext/vcftools/website/img/quote.gif +0 -0
  224. data/ext/vcftools/website/img/search.gif +0 -0
  225. data/ext/vcftools/website/src/.svn/all-wcprops +53 -0
  226. data/ext/vcftools/website/src/.svn/entries +300 -0
  227. data/ext/vcftools/website/src/.svn/text-base/docs.inc.svn-base +202 -0
  228. data/ext/vcftools/website/src/.svn/text-base/index.inc.svn-base +52 -0
  229. data/ext/vcftools/website/src/.svn/text-base/index.php.svn-base +80 -0
  230. data/ext/vcftools/website/src/.svn/text-base/license.inc.svn-base +27 -0
  231. data/ext/vcftools/website/src/.svn/text-base/links.inc.svn-base +13 -0
  232. data/ext/vcftools/website/src/.svn/text-base/options.inc.svn-base +654 -0
  233. data/ext/vcftools/website/src/.svn/text-base/perl_module.inc.svn-base +249 -0
  234. data/ext/vcftools/website/src/.svn/text-base/specs.inc.svn-base +18 -0
  235. data/ext/vcftools/website/src/docs.inc +202 -0
  236. data/ext/vcftools/website/src/index.inc +52 -0
  237. data/ext/vcftools/website/src/index.php +80 -0
  238. data/ext/vcftools/website/src/license.inc +27 -0
  239. data/ext/vcftools/website/src/links.inc +13 -0
  240. data/ext/vcftools/website/src/options.inc +654 -0
  241. data/ext/vcftools/website/src/perl_module.inc +249 -0
  242. data/ext/vcftools/website/src/specs.inc +18 -0
  243. data/lib/config.ru +9 -0
  244. data/lib/ngs_server/add.rb +9 -0
  245. data/lib/ngs_server/version.rb +1 -1
  246. data/lib/ngs_server.rb +55 -3
  247. data/ngs_server.gemspec +5 -2
  248. metadata +296 -6
@@ -0,0 +1,154 @@
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+ /*
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+ * parameters.cpp
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+ *
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+ * Created on: Nov 11, 2009
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+ * Author: Adam Auton
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+ * ($Revision: 249 $)
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+ */
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+
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+ // Class for reading in, checking and storing user parameters
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+ #ifndef PARAMETERS_H_
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+ #define PARAMETERS_H_
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+
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+ #include <cstdio>
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+ #include <cstdlib>
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+ #include <iostream>
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+ #include <limits>
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+ #include <string>
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+ #include <vector>
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+ #include <set>
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+
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+ #include "output_log.h"
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+
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+ using namespace std;
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+
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+ const string VCFTOOLS_VERSION="v0.1.7";
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+
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+ class parameters
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+ {
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+ public:
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+ bool BED_exclude;
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+ string BED_file;
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+ string chr_to_exclude;
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+ string chr_to_keep;
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+ bool diff_discordance_matrix;
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+ string diff_file;
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+ bool diff_file_compressed;
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+ bool diff_indv_discordance;
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+ bool diff_site_discordance;
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+ bool diff_switch_error;
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+ int end_pos;
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+ bool force_write_index;
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+ string FORMAT_id_to_extract;
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+ string fst_file;
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+ bool fst_file_compressed;
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+ vector<string> fst_populations;
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+ set<string> geno_filter_flags_to_exclude;
47
+ string indv_exclude_file;
48
+ string indv_keep_file;
49
+ set<string> indv_to_exclude;
50
+ set<string> indv_to_keep;
51
+ vector<string> INFO_to_extract;
52
+ bool invert_mask;
53
+ int ld_bp_window_size;
54
+ int ld_snp_window_size;
55
+ int min_mac;
56
+ double min_maf;
57
+ string mask_file;
58
+ int max_alleles;
59
+ int max_genotype_depth;
60
+ double max_indv_mean_depth;
61
+ int max_mac;
62
+ double max_maf;
63
+ double max_mean_depth;
64
+ int max_missing_call_count;
65
+ int max_non_ref_ac;
66
+ double max_non_ref_af;
67
+ int max_N_indv;
68
+ int min_alleles;
69
+ int min_genotype_depth;
70
+ double min_genotype_quality;
71
+ double min_HWE_pvalue;
72
+ double min_indv_call_rate;
73
+ double min_indv_mean_depth;
74
+ int min_interSNP_distance;
75
+ int min_kept_mask_value;
76
+ double min_mean_depth;
77
+ int min_non_ref_ac;
78
+ double min_non_ref_af;
79
+ double min_quality;
80
+ double min_r2;
81
+ double min_site_call_rate;
82
+ bool output_012_matrix;
83
+ bool output_as_IMPUTE;
84
+ bool output_as_ldhat_phased;
85
+ bool output_as_ldhat_unphased;
86
+ bool output_BEAGLE_genotype_likelihoods;
87
+ bool output_counts;
88
+ bool output_filter_summary;
89
+ bool output_filtered_sites;
90
+ bool output_freq;
91
+ bool output_geno_depth;
92
+ bool output_geno_rsq;
93
+ bool output_hap_rsq;
94
+ bool output_het;
95
+ bool output_HWE;
96
+ bool output_indv_depth;
97
+ bool output_interchromosomal_rsq;
98
+ bool output_LROH;
99
+ bool output_missingness;
100
+ int output_N_PCA_SNP_loadings;
101
+ bool output_PCA;
102
+ string output_prefix;
103
+ bool output_relatedness;
104
+ bool output_singletons;
105
+ bool output_site_depth;
106
+ bool output_site_mean_depth;
107
+ bool output_site_pi;
108
+ bool output_site_quality;
109
+ int output_SNP_density_bin_size;
110
+ int output_Tajima_D_bin_size;
111
+ int output_TsTv_bin_size;
112
+ bool output_TsTv_by_count;
113
+ bool output_TsTv_by_qual;
114
+ bool phased_only;
115
+ bool PCA_no_normalisation;
116
+ int pi_window_size;
117
+ bool plink_output;
118
+ bool plink_tped_output;
119
+ string positions_file;
120
+ bool recode;
121
+ set<string> recode_INFO_to_keep;
122
+ bool recode_all_INFO;
123
+ bool remove_all_filtered_genotypes;
124
+ bool remove_all_filtered_sites;
125
+ set<string> site_filter_flags_to_exclude;
126
+ set<string> site_filter_flags_to_keep;
127
+ set<string> site_INFO_flags_to_keep;
128
+ set<string> site_INFO_flags_to_remove;
129
+ string snps_to_exclude_file;
130
+ string snps_to_keep_file;
131
+ set<string> snps_to_keep;
132
+ int start_pos;
133
+ bool suppress_allele_output;
134
+ string vcf_filename;
135
+ bool vcf_compressed;
136
+
137
+ parameters(int argc, char *argv[]);
138
+ ~parameters(){};
139
+
140
+ void read_parameters();
141
+ void print_help();
142
+ void print_params();
143
+
144
+ private:
145
+ void check_parameters();
146
+ static void error(string err_msg, int code);
147
+
148
+ vector<string> argv;
149
+
150
+ string get_arg(unsigned int i);
151
+ };
152
+
153
+
154
+ #endif /* PARAMETERS_H_ */
@@ -0,0 +1,497 @@
1
+ /*
2
+ * vcf_entry.cpp
3
+ *
4
+ * Created on: Aug 19, 2009
5
+ * Author: Adam Auton
6
+ * ($Revision: 230 $)
7
+ */
8
+
9
+ #include "vcf_entry.h"
10
+
11
+ map<string, Field_description> vcf_entry::INFO_map;
12
+ map<string, string> vcf_entry::FILTER_map;
13
+ map<string, Field_description> vcf_entry::FORMAT_map;
14
+
15
+ // Create a VCF on the basis of a data line.
16
+ vcf_entry::vcf_entry(const unsigned int N_indv, const string &line)
17
+ : N_indv(N_indv),
18
+ data_stream(line),
19
+ basic_parsed(false), fully_parsed(false),
20
+ parsed_ALT(false), parsed_FILTER(false),
21
+ parsed_INFO(false), parsed_FORMAT(false),
22
+ CHROM(""), POS(-1), REF(""), QUAL(-1),
23
+ passed_filters(false),
24
+ parsed_GT(N_indv, false), parsed_GQ(N_indv, false), parsed_DP(N_indv, false),
25
+ parsed_FT(N_indv, false),
26
+ ALT_str(""), FILTER_str(""), INFO_str(""), FORMAT_str(""), QUAL_str("")
27
+ {
28
+ }
29
+
30
+ // Create an empty VCF entry
31
+ vcf_entry::vcf_entry(const unsigned int N_indv)
32
+ : N_indv(N_indv),
33
+ data_stream("0\t0\t.\tN\t.\t.\t.\t."),
34
+ basic_parsed(false), fully_parsed(false),
35
+ parsed_ALT(false), parsed_FILTER(false),
36
+ parsed_INFO(false), parsed_FORMAT(false),
37
+ CHROM(""), POS(-1), REF(""), QUAL(-1),
38
+ passed_filters(false),
39
+ parsed_GT(N_indv, false), parsed_GQ(N_indv, false), parsed_DP(N_indv, false),
40
+ parsed_FT(N_indv, false),
41
+ ALT_str(""), FILTER_str(""), INFO_str(""), FORMAT_str(""), QUAL_str("")
42
+ {
43
+ }
44
+
45
+ vcf_entry::~vcf_entry() {}
46
+
47
+ // Reset the VCF entry object with a new data line
48
+ void vcf_entry::reset(const string &vcf_data_line)
49
+ {
50
+ basic_parsed = false;
51
+ fully_parsed = false;
52
+ parsed_ALT = false;
53
+ parsed_FILTER = false;
54
+ parsed_INFO = false;
55
+ parsed_FORMAT = false;
56
+
57
+ data_stream.clear();
58
+ data_stream.str(vcf_data_line);
59
+
60
+ fill(parsed_GT.begin(), parsed_GT.end(), false);
61
+ fill(parsed_GQ.begin(), parsed_GQ.end(), false);
62
+ fill(parsed_DP.begin(), parsed_DP.end(), false);
63
+ fill(parsed_FT.begin(), parsed_FT.end(), false);
64
+ }
65
+
66
+ // Tokenize the basic information in a VCF data line (at the tab level)
67
+ void vcf_entry::parse_basic_entry(bool parse_ALT, bool parse_FILTER, bool parse_INFO)
68
+ {
69
+ data_stream >> CHROM >> POS >> ID >> REF >> ALT_str >> QUAL_str >> FILTER_str >> INFO_str;
70
+ QUAL = str2double(QUAL_str);
71
+
72
+ // Convert to uppercase for consistency
73
+ // Note that VCF v4.1 allows mixtures of lower/upper case in REF and ALT.
74
+ // However, the spec specifically states that tools using VCF are not required
75
+ // to preserve the case.
76
+ std::transform(REF.begin(), REF.end(), REF.begin(), ::toupper);
77
+ std::transform(ALT_str.begin(), ALT_str.end(),ALT_str.begin(), ::toupper);
78
+
79
+ parsed_ALT = false;
80
+ parsed_FILTER = false;
81
+ parsed_INFO = false;
82
+ basic_parsed = true;
83
+
84
+ if (parse_ALT)
85
+ set_ALT(ALT_str);
86
+ if (parse_FILTER)
87
+ set_FILTER(FILTER_str);
88
+ if (parse_INFO)
89
+ set_INFO(INFO_str);
90
+ }
91
+
92
+ // Tokenize the genotype information (at the 'tab' level) in the VCF entry
93
+ void vcf_entry::parse_full_entry(bool parse_FORMAT)
94
+ {
95
+ if (basic_parsed == false)
96
+ parse_basic_entry();
97
+
98
+ data_stream >> FORMAT_str;
99
+
100
+ if (parse_FORMAT)
101
+ set_FORMAT(FORMAT_str);
102
+
103
+ string tmpstr; tmpstr.reserve(64);
104
+ GENOTYPE_str.resize(N_indv, tmpstr);
105
+
106
+ for (unsigned int ui=0; ui<N_indv; ui++)
107
+ data_stream >> GENOTYPE_str[ui];
108
+
109
+ // The following line copies the GENOTYPE fields from the stringstream into the GENOTYPE_str vector.
110
+ // Is actually slower than the above code.
111
+ //copy(istream_iterator<string>(data_stream), istream_iterator<string>(), GENOTYPE_str.begin());
112
+
113
+ fully_parsed = true;
114
+ }
115
+
116
+ // Tokenize a given genotype entry into it's component parts
117
+ void vcf_entry::parse_genotype_entry(unsigned int indv, bool GT, bool GQ, bool DP, bool FT)
118
+ {
119
+ if (fully_parsed == false)
120
+ parse_full_entry(true);
121
+
122
+ if (parsed_FORMAT == false)
123
+ set_FORMAT(FORMAT_str);
124
+
125
+ static string tmpstr;
126
+ static istringstream ss;
127
+ ss.clear(); ss.str(GENOTYPE_str[indv]);
128
+
129
+ int N_required = GT + GQ + DP + FT;
130
+ int N_got = 0;
131
+
132
+ int i=0;
133
+ while (getline(ss, tmpstr, ':'))
134
+ {
135
+ if (GT && (i == GT_idx)) // (FORMAT[ui] == "GT")
136
+ {
137
+ set_indv_GENOTYPE_and_PHASE(indv, tmpstr);
138
+ N_got++;
139
+ }
140
+ else if (GQ && (i == GQ_idx)) // (FORMAT[ui] == "GQ")
141
+ {
142
+ set_indv_GQUALITY(indv, str2double(tmpstr));
143
+ N_got++;
144
+ }
145
+ else if (DP && (i == DP_idx)) // (FORMAT[ui] == "DP")
146
+ {
147
+ set_indv_DEPTH(indv, str2int(tmpstr));
148
+ N_got++;
149
+ }
150
+ else if (FT && (i == FT_idx)) // (FORMAT[ui] == "FT")
151
+ {
152
+ set_indv_GFILTER(indv, tmpstr);
153
+ N_got++;
154
+ }
155
+
156
+ if (N_got == N_required)
157
+ break;
158
+ i++;
159
+ }
160
+
161
+ // Set missing return values if requested a value, but couldn't find it
162
+ if (GT && (parsed_GT[indv] == false))
163
+ {
164
+ set_indv_GENOTYPE_and_PHASE(indv, make_pair(-1,-1), '/');
165
+ }
166
+ if (GQ && (parsed_GQ[indv] == false))
167
+ {
168
+ set_indv_GQUALITY(indv, -1);
169
+ }
170
+ if (DP && (parsed_DP[indv] == false))
171
+ {
172
+ set_indv_DEPTH(indv, -1);
173
+ }
174
+ if (FT && (parsed_FT[indv] == false))
175
+ {
176
+ set_indv_GFILTER(indv, "");
177
+ }
178
+ }
179
+
180
+ // Read the VCF entry and fully populate the object
181
+ void vcf_entry::parse_genotype_entries(bool GT, bool GQ, bool DP, bool FT)
182
+ {
183
+ for (unsigned int ui=0; ui<N_indv; ui++)
184
+ parse_genotype_entry(ui, GT, GQ, DP, FT);
185
+ }
186
+
187
+ void vcf_entry::print(ostream &out)
188
+ {
189
+ vector<bool> include_indv(N_indv, true);
190
+ vector<bool> include_genotype(N_indv, true);
191
+ set<string> INFO_to_keep;
192
+ print(out, INFO_to_keep, false, include_indv, include_genotype);
193
+ }
194
+
195
+ void vcf_entry::print(ostream &out, const set<string> &INFO_to_keep, bool keep_all_INFO)
196
+ {
197
+ vector<bool> include_indv(N_indv, true);
198
+ vector<bool> include_genotype(N_indv, true);
199
+ print(out, INFO_to_keep, keep_all_INFO, include_indv, include_genotype);
200
+ }
201
+
202
+ // Output VCF entry to output stream
203
+ void vcf_entry::print(ostream &out, const set<string> &INFO_to_keep, bool keep_all_INFO, const vector<bool> &include_indv, const vector<bool> &include_genotype)
204
+ {
205
+ if (fully_parsed == false)
206
+ parse_full_entry();
207
+
208
+ out << get_CHROM() << '\t' << POS << '\t' << get_ID() << '\t' << REF << '\t' << get_ALT();
209
+
210
+ out << '\t' << double2str(QUAL);
211
+ out << '\t' << get_FILTER();
212
+ if (keep_all_INFO == false)
213
+ out << '\t' << get_INFO(INFO_to_keep);
214
+ else
215
+ out << '\t' << INFO_str;
216
+
217
+ pair<int, int> genotype;
218
+ string GFILTER_tmp;
219
+ if (FORMAT.size() > 0)
220
+ {
221
+ char PHASE;
222
+ out << '\t' << get_FORMAT();
223
+
224
+ for (unsigned int ui=0; ui<N_indv; ui++)
225
+ {
226
+ if (include_indv[ui] == false)
227
+ continue;
228
+ out << '\t';
229
+ for (int count=0; count<(int)FORMAT.size(); count++)
230
+ {
231
+ if (count == GT_idx) // (FORMAT[count] == "GT")
232
+ {
233
+ if (count != 0) out << ':';
234
+ if (include_genotype[ui] == true)
235
+ {
236
+ get_indv_GENOTYPE_ids(ui, genotype);
237
+ PHASE = get_indv_PHASE(ui);
238
+ if ((genotype.first != -1) && (genotype.second != -1))
239
+ out << int2str(genotype.first) << PHASE << int2str(genotype.second);
240
+ else if ((PHASE == '|') && (genotype.second == -1))
241
+ out << int2str(genotype.first); // Handle haploid case
242
+ else
243
+ out << int2str(genotype.first) << PHASE << int2str(genotype.second);
244
+ }
245
+ else
246
+ out << "./.";
247
+ }
248
+ else if (count == GQ_idx) //(FORMAT[count] == "GQ")
249
+ {
250
+ if (count != 0) out << ':';
251
+ out << double2str(get_indv_GQUALITY(ui));
252
+ }
253
+ else if (count == DP_idx) // (FORMAT[count] == "DP")
254
+ {
255
+ if (count != 0) out << ':';
256
+ out << int2str(get_indv_DEPTH(ui));
257
+ }
258
+ else if (count == FT_idx) // (FORMAT[count] == "FT")
259
+ {
260
+ if (count != 0) out << ':';
261
+ get_indv_GFILTER(ui, GFILTER_tmp);
262
+ out << GFILTER_tmp;
263
+ }
264
+ else
265
+ { // Unknown FORMAT so just replicate original output
266
+ if (count != 0) out << ':';
267
+ read_indv_generic_entry(ui, FORMAT[count], GFILTER_tmp);
268
+ out << GFILTER_tmp;
269
+ }
270
+ }
271
+ }
272
+ }
273
+ // out << endl;
274
+ out << '\n'; // endl flushes the buffer, which is slow. This (should be) quicker.
275
+ }
276
+
277
+ // Set the include_genotype flag on the basis of depth
278
+ void vcf_entry::filter_genotypes_by_depth(vector<bool> &include_genotype_out, int min_depth, int max_depth)
279
+ {
280
+ if (fully_parsed == false)
281
+ parse_full_entry();
282
+
283
+ //if (FORMAT_to_idx.find("DP") != FORMAT_to_idx.end())
284
+ if (DP_idx != -1)
285
+ { // Have depth info
286
+ int depth;
287
+ include_genotype_out.resize(N_indv, true);
288
+ for (unsigned int ui=0; ui<N_indv; ui++)
289
+ {
290
+ if (parsed_DP[ui] == false)
291
+ parse_genotype_entry(ui, false, false, true);
292
+ depth = get_indv_DEPTH(ui);
293
+ if ((depth < min_depth) || (depth > max_depth))
294
+ include_genotype_out[ui] = false;
295
+ }
296
+ }
297
+ }
298
+
299
+ // Filter specific genotypes by quality
300
+ void vcf_entry::filter_genotypes_by_quality(vector<bool> &include_genotype_out, double min_genotype_quality)
301
+ {
302
+ if (fully_parsed == false)
303
+ parse_full_entry();
304
+
305
+ //if (FORMAT_to_idx.find("GQ") != FORMAT_to_idx.end())
306
+ if (GQ_idx != -1)
307
+ { // Have quality info
308
+ double quality;
309
+ include_genotype_out.resize(N_indv, true);
310
+ for (unsigned int ui=0; ui<N_indv; ui++)
311
+ {
312
+ if (parsed_GQ[ui] == false)
313
+ parse_genotype_entry(ui, false, true);
314
+ quality = get_indv_GQUALITY(ui);
315
+ if (quality < min_genotype_quality)
316
+ include_genotype_out[ui] = false;
317
+ }
318
+ }
319
+ }
320
+
321
+ // Exclude genotypes with a filter flag.
322
+ void vcf_entry::filter_genotypes_by_filter_status(vector<bool> &include_genotype_out, const set<string> &filter_flags_to_remove, bool remove_all)
323
+ {
324
+ if (fully_parsed == false)
325
+ parse_full_entry();
326
+
327
+ string filter;
328
+ vector<string> GFILTERs;
329
+ //if (FORMAT_to_idx.find("FT") != FORMAT_to_idx.end())
330
+ if (FT_idx != -1)
331
+ { // Have GFilter info
332
+ include_genotype_out.resize(N_indv, true);
333
+ for (unsigned int ui=0; ui<N_indv; ui++)
334
+ {
335
+ if (parsed_FT[ui] == false)
336
+ parse_genotype_entry(ui, false, false, false, true);
337
+ get_indv_GFILTER_vector(ui, GFILTERs);
338
+
339
+ if ((remove_all == true) && (GFILTERs.size() > 0))
340
+ include_genotype_out[ui] = false;
341
+ else
342
+ {
343
+ for (unsigned int uj=0; uj<GFILTERs.size(); uj++)
344
+ if (filter_flags_to_remove.find(GFILTERs[uj]) != filter_flags_to_remove.end())
345
+ include_genotype_out[ui] = false;
346
+ }
347
+ }
348
+ }
349
+ }
350
+
351
+ /*
352
+ // This function implements an exact SNP test of Hardy-Weinberg
353
+ // Equilibrium as described in Wigginton, JE, Cutler, DJ, and
354
+ // Abecasis, GR (2005) A Note on Exact Tests of Hardy-Weinberg
355
+ // Equilibrium. American Journal of Human Genetics. 76: 000 - 000
356
+ //
357
+ // Written by Jan Wigginton
358
+ */
359
+ double vcf_entry::SNPHWE(int obs_hets, int obs_hom1, int obs_hom2)
360
+ {
361
+ if (obs_hom1 + obs_hom2 + obs_hets == 0 ) return 1;
362
+
363
+ if (obs_hom1 < 0 || obs_hom2 < 0 || obs_hets < 0)
364
+ error("Internal error: negative count in HWE test", 91);
365
+
366
+ int obs_homc = obs_hom1 < obs_hom2 ? obs_hom2 : obs_hom1;
367
+ int obs_homr = obs_hom1 < obs_hom2 ? obs_hom1 : obs_hom2;
368
+
369
+ int rare_copies = 2 * obs_homr + obs_hets;
370
+ int genotypes = obs_hets + obs_homc + obs_homr;
371
+
372
+ double * het_probs = (double *) malloc((size_t) (rare_copies + 1) * sizeof(double));
373
+ if (het_probs == NULL)
374
+ error("Internal error: SNP-HWE: Unable to allocate array", 90);
375
+
376
+ for (int i = 0; i <= rare_copies; i++)
377
+ het_probs[i] = 0.0;
378
+
379
+ /* start at midpoint */
380
+ int mid = rare_copies * (2 * genotypes - rare_copies) / (2 * genotypes);
381
+
382
+ /* check to ensure that midpoint and rare alleles have same parity */
383
+ if ((rare_copies & 1) ^ (mid & 1))
384
+ mid++;
385
+
386
+ int curr_hets = mid;
387
+ int curr_homr = (rare_copies - mid) / 2;
388
+ int curr_homc = genotypes - curr_hets - curr_homr;
389
+
390
+ het_probs[mid] = 1.0;
391
+ double sum = het_probs[mid];
392
+ for (curr_hets = mid; curr_hets > 1; curr_hets -= 2)
393
+ {
394
+ het_probs[curr_hets - 2] = het_probs[curr_hets] * curr_hets * (curr_hets - 1.0) / (4.0 * (curr_homr + 1.0) * (curr_homc + 1.0));
395
+ sum += het_probs[curr_hets - 2];
396
+
397
+ /* 2 fewer heterozygotes for next iteration -> add one rare, one common homozygote */
398
+ curr_homr++;
399
+ curr_homc++;
400
+ }
401
+
402
+ curr_hets = mid;
403
+ curr_homr = (rare_copies - mid) / 2;
404
+ curr_homc = genotypes - curr_hets - curr_homr;
405
+ for (curr_hets = mid; curr_hets <= rare_copies - 2; curr_hets += 2)
406
+ {
407
+ het_probs[curr_hets + 2] = het_probs[curr_hets] * 4.0 * curr_homr * curr_homc /((curr_hets + 2.0) * (curr_hets + 1.0));
408
+ sum += het_probs[curr_hets + 2];
409
+
410
+ /* add 2 heterozygotes for next iteration -> subtract one rare, one common homozygote */
411
+ curr_homr--;
412
+ curr_homc--;
413
+ }
414
+
415
+ for (int i = 0; i <= rare_copies; i++)
416
+ het_probs[i] /= sum;
417
+
418
+ /* alternate p-value calculation for p_hi/p_lo
419
+ double p_hi = het_probs[obs_hets];
420
+ for (int i = obs_hets + 1; i <= rare_copies; i++)
421
+ p_hi += het_probs[i];
422
+
423
+ double p_lo = het_probs[obs_hets];
424
+ for (int i = obs_hets - 1; i >= 0; i--)
425
+ p_lo += het_probs[i];
426
+
427
+ double p_hi_lo = p_hi < p_lo ? 2.0 * p_hi : 2.0 * p_lo;
428
+ */
429
+
430
+ double p_hwe = 0.0;
431
+ /* p-value calculation for p_hwe */
432
+ for (int i = 0; i <= rare_copies; i++)
433
+ {
434
+ if (het_probs[i] > het_probs[obs_hets])
435
+ continue;
436
+ p_hwe += het_probs[i];
437
+ }
438
+
439
+ p_hwe = p_hwe > 1.0 ? 1.0 : p_hwe;
440
+
441
+ free(het_probs);
442
+
443
+ return p_hwe;
444
+ }
445
+
446
+ int vcf_entry::str2int(const string &in, const int missing_value)
447
+ {
448
+ if ((in.size() == 0) || (in == "."))
449
+ return missing_value;
450
+ else
451
+ return atoi(in.c_str());
452
+ }
453
+
454
+ double vcf_entry::str2double(const string &in, const double missing_value)
455
+ {
456
+ if ((in.size() == 0) || (in == "."))
457
+ return missing_value;
458
+ else
459
+ return atof(in.c_str());
460
+ }
461
+
462
+ string vcf_entry::int2str(const int in, const int missing_value)
463
+ {
464
+ if (in == missing_value)
465
+ return ".";
466
+ else
467
+ {
468
+ static ostringstream out;
469
+ out.str(""); out.clear();
470
+ out << in;
471
+ return out.str();
472
+ }
473
+ }
474
+
475
+ string vcf_entry::double2str(const double in, const double missing_value)
476
+ {
477
+ if (in == missing_value)
478
+ return ".";
479
+ else
480
+ {
481
+ static ostringstream out;
482
+ out.str(""); out.clear();
483
+ out << in;
484
+ return out.str();
485
+ }
486
+ }
487
+
488
+ void vcf_entry::tokenize(const string &in, char token, vector<string> &out)
489
+ {
490
+ out.resize(0);
491
+ istringstream ss(in);
492
+ string tmp;
493
+ while( getline(ss, tmp, token) )
494
+ {
495
+ out.push_back(tmp);
496
+ }
497
+ }