bio-vcf 0.8.2 → 0.9.0

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Files changed (62) hide show
  1. checksums.yaml +4 -4
  2. data/.travis.yml +8 -2
  3. data/Gemfile +4 -6
  4. data/README.md +92 -57
  5. data/Rakefile +3 -41
  6. data/TAGS +115 -0
  7. data/VERSION +1 -1
  8. data/bin/bio-vcf +58 -70
  9. data/bio-vcf.gemspec +23 -75
  10. data/features/cli.feature +6 -1
  11. data/features/multisample.feature +12 -0
  12. data/features/step_definitions/cli-feature.rb +2 -2
  13. data/features/step_definitions/multisample.rb +19 -0
  14. data/features/step_definitions/vcf_header.rb +1 -1
  15. data/features/support/env.rb +0 -9
  16. data/lib/bio-vcf/pcows.rb +210 -0
  17. data/lib/bio-vcf/vcfheader.rb +28 -9
  18. data/lib/bio-vcf/vcfheader_line.rb +455 -160
  19. data/lib/bio-vcf/vcfrecord.rb +30 -15
  20. data/ragel/gen_vcfheaderline_parser.rl +68 -25
  21. data/ragel/generate.sh +4 -1
  22. data/template/vcf2json.erb +16 -16
  23. data/template/vcf2json_full_header.erb +16 -17
  24. data/template/vcf2json_use_meta.erb +35 -35
  25. data/test/data/input/gatk_exome.vcf +237 -0
  26. data/test/data/input/gatk_wgs.vcf +1000 -0
  27. data/test/data/input/test.bed +632 -0
  28. data/test/data/regression/eval_once-stderr.new +1 -0
  29. data/test/data/regression/eval_once.new +1 -0
  30. data/test/data/regression/eval_once.ref +1 -0
  31. data/test/data/regression/eval_r.info.dp-stderr.new +4 -0
  32. data/test/data/regression/eval_r.info.dp.new +150 -0
  33. data/test/data/regression/ifilter_s.dp-stderr.new +28 -0
  34. data/test/data/regression/ifilter_s.dp.new +31 -0
  35. data/test/data/regression/r.info.dp-stderr.new +4 -0
  36. data/test/data/regression/r.info.dp.new +147 -0
  37. data/test/data/regression/rewrite.info.sample-stderr.new +4 -0
  38. data/test/data/regression/rewrite.info.sample.new +150 -0
  39. data/test/data/regression/s.dp-stderr.new +12 -0
  40. data/test/data/regression/s.dp.new +145 -0
  41. data/test/data/regression/seval_s.dp-stderr.new +4 -0
  42. data/test/data/regression/seval_s.dp.new +36 -0
  43. data/test/data/regression/sfilter_seval_s.dp-stderr.new +12 -0
  44. data/test/data/regression/sfilter_seval_s.dp.new +31 -0
  45. data/test/data/regression/thread4-stderr.new +4 -0
  46. data/test/data/regression/thread4.new +150 -0
  47. data/test/data/regression/thread4_4-stderr.new +15 -0
  48. data/test/data/regression/thread4_4.new +150 -0
  49. data/test/data/regression/thread4_4_failed_filter-stderr.new +5 -0
  50. data/test/data/regression/thread4_4_failed_filter-stderr.ref +5 -2
  51. data/test/data/regression/thread4_4_failed_filter.new +110 -0
  52. data/test/data/regression/vcf2json_full_header-stderr.new +4 -0
  53. data/test/data/regression/vcf2json_full_header.new +225 -0
  54. data/test/data/regression/vcf2json_full_header.ref +222 -258
  55. data/test/data/regression/vcf2json_use_meta-stderr.new +4 -0
  56. data/test/data/regression/vcf2json_use_meta.new +4697 -0
  57. data/test/data/regression/vcf2json_use_meta.ref +4697 -0
  58. data/test/performance/metrics.md +18 -1
  59. data/test/tmp/test.vcf +12469 -0
  60. metadata +38 -62
  61. data/Gemfile.lock +0 -81
  62. data/ragel/gen_vcfheaderline_parser.rb +0 -483
@@ -13,38 +13,49 @@ module BioVcf
13
13
  end
14
14
  end
15
15
 
16
- # Set INFO fields (used by --rewrite)
17
- def []= k, v
18
- split_fields if not @h
19
- kupper = k.upcase
20
- @h[kupper] = v
21
- @original_key[kupper] = k
22
- end
23
-
24
- def method_missing(m, *args, &block)
16
+ def [] k
25
17
  # split_fields if not @h
26
18
  # /#{m}=(?<value>[^;])/.@info
19
+ kupper = k.upcase
27
20
  v = if @h
28
- @h[m.to_s.upcase]
21
+ @h[kupper]
29
22
  else
30
- @info =~ /#{m.to_s}=([^;]+)/i
23
+ @info =~ /[\A;]#{k}=([^;]+)/i
31
24
  value = $1
32
25
  # p [m,value]
33
26
  # m = @info.match(/#{m.to_s.upcase}=(?<value>[^;]+)/) slower!
34
27
  # value = m[:value]
35
28
  if value == nil
36
29
  split_fields # no option but to split
37
- @h[m.to_s.upcase]
30
+ @h[kupper]
38
31
  else
39
32
  value
40
33
  end
41
34
  end
42
35
  ConvertStringToValue::convert(v)
36
+ end
37
+
38
+ # Set INFO fields (used by --rewrite)
39
+ def []= k, v
40
+ split_fields if not @h
41
+ kupper = k.upcase
42
+ @h[kupper] = v
43
+ @original_key[kupper] = k
44
+ end
45
+
46
+ def fields
47
+ split_fields
48
+ @h.keys
49
+ end
50
+
51
+ def method_missing(m, *args, &block)
52
+ self[m.to_s]
43
53
  end
44
54
 
45
55
  private
46
56
 
47
57
  def split_fields
58
+ return @h if @h
48
59
  @h = {}
49
60
  @original_key = {}
50
61
  @info.split(/;/).each do |f|
@@ -151,6 +162,10 @@ module BioVcf
151
162
  @qual ||= @fields[5].to_f
152
163
  end
153
164
 
165
+ def filter
166
+ @filter ||= @fields[6]
167
+ end
168
+
154
169
  def info
155
170
  @info ||= VcfRecordParser.get_info(@fields[7])
156
171
  end
@@ -239,19 +254,19 @@ module BioVcf
239
254
  end
240
255
  end
241
256
 
242
- def filter expr, ignore_missing_data: true, quiet: false
257
+ def gfilter expr, ignore_missing_data: true, quiet: false
243
258
  begin
244
259
  if not respond_to?(:call_cached_filter)
245
260
  code =
246
261
  """
247
- def call_cached_filter(rec,fields)
262
+ def call_cached_gfilter(rec,fields)
248
263
  r = rec
249
264
  #{expr}
250
265
  end
251
266
  """
252
267
  self.class.class_eval(code)
253
268
  end
254
- res = call_cached_filter(self,@fields)
269
+ res = call_cached_gfilter(self,@fields)
255
270
  if res.kind_of?(Array)
256
271
  res.join("\t")
257
272
  else
@@ -1,20 +1,30 @@
1
1
  # Ragel lexer for VCF-header
2
2
  #
3
- # This is a partial lexer for the VCF header format. Bio-vcf uses this
4
- # to generate meta information in (for example) JSON format. The
5
- # advantage of using a full state engine is that it allows for easy
6
- # parsing of key-value pairs with syntax checking and, for example,
7
- # escaped quotes in quoted string values. This edition validates ID and
8
- # Number fields only.
3
+ # This is compact a parser/lexer for the VCF header format. Bio-vcf
4
+ # uses the parser to generate meta information that can be output to
5
+ # (for example) JSON format. The advantage of using ragel as a state
6
+ # engine is that it allows for easy parsing of key-value pairs with
7
+ # syntax checking and, for example, escaped quotes in quoted string
8
+ # values. This ragel parser/lexer generates valid Ruby; it should be
9
+ # fairly trivial to generate python/C/JAVA instead. Note that this
10
+ # edition validates ID and Number fields only. Other fields are
11
+ # dumped 'AS IS'.
9
12
  #
10
13
  # Note the .rb version is generated from ./ragel/gen_vcfheaderline_parser.rl
14
+ #
15
+ # by Pjotr Prins (c) 2014/2015
11
16
 
12
17
  module BioVcf
13
18
 
14
19
  module VcfHeaderParser
15
20
 
16
21
  module RagelKeyValues
17
-
22
+
23
+ def self.debug msg
24
+ # nothing
25
+ # $stderr.print "DEBUG: ",msg,"\n"
26
+ end
27
+
18
28
  =begin
19
29
  %%{
20
30
 
@@ -34,34 +44,43 @@ module BioVcf
34
44
  not_squote_or_escape = [^'\\];
35
45
  not_dquote_or_escape = [^"\\];
36
46
  escaped_something = /\\./;
37
- ss = space* squote ( not_squote_or_escape | escaped_something )* >mark %endquoted squote;
38
- dd = space* dquote ( not_dquote_or_escape | escaped_something )* >mark %endquoted dquote;
47
+ ss = squote ( not_squote_or_escape | escaped_something )* >mark %endquoted squote;
48
+ dd = dquote ( not_dquote_or_escape | escaped_something )* >mark %endquoted dquote;
39
49
 
40
50
  integer = ('+'|'-')?digit+;
41
51
  float = ('+'|'-')?digit+'.'digit+;
42
52
  assignment = '=';
43
- identifier = (alpha alnum+);
44
- str = (ss|dd)* ;
53
+ identifier = ( alnum (alnum|'.'|'_')* );
54
+ version = ( digit (alnum|'.'|'_'|'-')* );
55
+ str = (ss|dd)* ;
45
56
  boolean = '.';
46
- key_word = ( ('Type'|'Description'|'Source'|'Version'|identifier - ('ID'|'Number')) >mark %{ emit.call(:key_word,data,ts,p) } );
57
+ date = str;
58
+ key_word = ( ('Type'|'Description'|'Source'|identifier - ('ID'|'Number'|'length'|'Version'|'assembly'|'Date'|'CommandLineOptions')) >mark %{ emit.call(:key_word,data,ts,p) } );
47
59
  any_value = ( str|( integer|float|boolean|identifier >mark %{ emit.call(:value,data,ts,p) } ));
48
60
  id_value = ( identifier >mark %{ emit.call(:value,data,ts,p) } );
49
-
61
+
62
+ version_value = ( str| ( version >mark %{ emit.call(:value,data,ts,p) } ));
63
+ date_value = ( date );
64
+ gatk_value = ( str );
50
65
  number_value = ( ( integer|boolean|'A'|'R'|'G' ) >mark %{ emit.call(:value,data,ts,p) } );
51
66
 
52
- id_kv = ( ( ('ID') %kw '=' id_value ) @!{ error_code="ID"} );
53
- number_kv = ( ( ('Number') %kw '=' number_value ) @!{ error_code="Number"} );
54
- key_value = ( id_kv | number_kv | (key_word '=' any_value) ) >mark @!{ error_code="key-value" };
55
-
56
- main := ( '##' ('FILTER'|'FORMAT'|'INFO'|'ALT') '=') (('<'|',') key_value )* ;
67
+ id_kv = ( ( ('ID'|'assembly') %kw '=' id_value ) %{ debug("ID FOUND") } @!{ error_code="Malformed ID"} );
68
+ version_kv = ( ( ('Version') %kw '=' version_value ) @!{ error_code="Version"} );
69
+ number_kv = ( ( ('Number'|'length') %kw '=' number_value ) @!{ error_code="Number"} );
70
+ date_kv = ( ( ('Date') %kw '=' date_value ) %{ debug("DATE FOUND") } @!{ error_code="Date"} );
71
+ gatk_kv = ( ( ('CommandLineOptions') %kw '=' gatk_value ) @!{ error_code="GATK"} );
72
+ key_value = ( id_kv | version_kv | date_kv | number_kv | gatk_kv | (key_word '=' any_value) ) %{ debug("KEY_VALUE found") } >mark @!{ error_code="unknown key-value " };
73
+
74
+ main := ( '##' ('FILTER'|'FORMAT'|'contig'|'INFO'|'ALT'|'GATKCommandLine') '=') (('<'|',') key_value )* '>';
57
75
  }%%
58
76
  =end
59
77
 
60
78
  %% write data;
61
- # %% this just fixes our syntax highlighting...
79
+ # %% this just fixes syntax highlighting...
62
80
 
63
81
  def self.run_lexer(buf, options = {})
64
82
  do_debug = (options[:debug] == true)
83
+ $stderr.print "---> ",buf,"\n" if do_debug
65
84
  data = buf.unpack("c*") if(buf.is_a?(String))
66
85
  eof = data.length
67
86
  values = []
@@ -70,7 +89,7 @@ def self.run_lexer(buf, options = {})
70
89
  emit = lambda { |type, data, ts, p|
71
90
  # Print the type and text of the last read token
72
91
  # p ts,p
73
- puts "#{type}: #{data[ts...p].pack('c*')}" if do_debug
92
+ $stderr.print "EMITTED: #{type}: #{data[ts...p].pack('c*')}\n" if do_debug
74
93
  values << [type,data[ts...p].pack('c*')]
75
94
  }
76
95
 
@@ -85,8 +104,11 @@ def self.run_lexer(buf, options = {})
85
104
  res = {}
86
105
  # p values
87
106
  values.each_slice(2) do | a,b |
88
- # p '*',a,b
89
- res[a[1]] = b[1]
107
+ $stderr.print '*',a,b if do_debug
108
+ keyword = a[1]
109
+ value = b[1]
110
+ value = value.to_i if ['length','Epoch'].index(keyword)
111
+ res[keyword] = value
90
112
  # p h[:value] if h[:name]==:identifier or h[:name]==:value or h[:name]==:string
91
113
  end
92
114
  rescue
@@ -94,7 +116,7 @@ def self.run_lexer(buf, options = {})
94
116
  p values
95
117
  raise
96
118
  end
97
- p res if do_debug
119
+ $stderr.print(res,"\n") if do_debug
98
120
  res
99
121
  end
100
122
  end
@@ -103,7 +125,19 @@ end
103
125
 
104
126
  if __FILE__ == $0
105
127
 
128
+ gatkcommandline = <<LINE1
129
+ ##GATKCommandLine=<ID=CombineVariants,Version=3.2-2-gec30cee,Date="Thu Oct 30 13:41:59 CET 2014",Epoch=1414672919266,CommandLineOptions="analysis_type=CombineVariants input_file=[] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/hpc/cog_bioinf/GENOMES/Homo_sapiens.GRCh37.GATK.illumina/Homo_sapiens.GRCh37.GATK.illumina.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 refactor_NDN_cigar_string=false fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false variant=[(RodBindingCollection [(RodBinding name=variant source=/hpc/cog_bioinf/data/robert/testIAP/testSubsetExome/tmp/testSubsetExome.filtered_snps.vcf)]), (RodBindingCollection [(RodBinding name=variant2 source=/hpc/cog_bioinf/data/robert/testIAP/testSubsetExome/tmp/testSubsetExome.filtered_indels.vcf)])] out=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub genotypemergeoption=UNSORTED filteredrecordsmergetype=KEEP_IF_ANY_UNFILTERED multipleallelesmergetype=BY_TYPE rod_priority_list=null printComplexMerges=false filteredAreUncalled=false minimalVCF=false excludeNonVariants=false setKey=set assumeIdenticalSamples=false minimumN=1 suppressCommandLineHeader=false mergeInfoWithMaxAC=false filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
130
+ LINE1
131
+
132
+ h = {}
133
+ s = gatkcommandline.strip
134
+ # print s,"\n"
135
+ result = BioVcf::VcfHeaderParser::RagelKeyValues.run_lexer(s, debug: true)
136
+ # h[result['ID']] = result
137
+ # p result
138
+
106
139
  lines = <<LINES
140
+ ##FILTER=<ID=HaplotypeScoreHigh,Description="HaplotypeScore > 13.0">
107
141
  ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
108
142
  ##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Total read depth",Extra="Yes?">
109
143
  ##FORMAT=<ID=DP4,Number=4,Type=Integer,Description="# high-quality ref-forward bases, ref-reverse, alt-forward and alt-reverse bases">
@@ -112,11 +146,20 @@ lines = <<LINES
112
146
  ##INFO=<ID=GENEINFO,Number=1,Type=String,Description="Pairs each of gene symbol:gene id. The gene symbol and id are delimited by a colon (:), and each pair is delimited by a vertical bar (|)">
113
147
  ##INFO=<ID=CLNHGVS,Number=.,Type=String,Description="Variant names from HGVS. The order of these variants corresponds to the order of the info in the other clinical INFO tags.">
114
148
  ##INFO=<ID=CLNHGVS1,Number=.,Type=String,Description="Variant names from \\"HGVS\\". The order of these 'variants' corresponds to the order of the info in the other clinical INFO tags.">
149
+ ##contig=<ID=XXXY12>
150
+ ##contig=<ID=Y,length=59373566>
115
151
  LINES
116
152
 
153
+ h = {}
117
154
  lines.strip.split("\n").each { |s|
118
- print s,"\n"
119
- p BioVcf::VcfHeaderParser::RagelKeyValues.run_lexer(s, debug: false)
155
+ # print s,"\n"
156
+ result = BioVcf::VcfHeaderParser::RagelKeyValues.run_lexer(s, debug: true)
157
+ h[result['ID']] = result
158
+ p result
120
159
  }
160
+ p h
161
+
162
+ raise "ERROR" if h != {"HaplotypeScoreHigh"=>{"ID"=>"HaplotypeScoreHigh", "Description"=>"HaplotypeScore > 13.0"}, "GT"=>{"ID"=>"GT", "Number"=>"1", "Type"=>"String", "Description"=>"Genotype"}, "DP"=>{"ID"=>"DP", "Number"=>"1", "Type"=>"Integer", "Description"=>"Total read depth", "Extra"=>"Yes?"}, "DP4"=>{"ID"=>"DP4", "Number"=>"4", "Type"=>"Integer", "Description"=>"# high-quality ref-forward bases, ref-reverse, alt-forward and alt-reverse bases"}, "PM"=>{"ID"=>"PM", "Number"=>"0", "Type"=>"Flag", "Description"=>"Variant is Precious(Clinical,Pubmed Cited)"}, "VP"=>{"ID"=>"VP", "Number"=>"1", "Type"=>"String", "Description"=>"Variation Property. Documentation is at ftp://ftp.ncbi.nlm.nih.gov/snp/specs/dbSNP_BitField_latest.pdf", "Source"=>"dbsnp", "Version"=>"138"}, "GENEINFO"=>{"ID"=>"GENEINFO", "Number"=>"1", "Type"=>"String", "Description"=>"Pairs each of gene symbol:gene id. The gene symbol and id are delimited by a colon (:), and each pair is delimited by a vertical bar (|)"}, "CLNHGVS"=>{"ID"=>"CLNHGVS", "Number"=>".", "Type"=>"String", "Description"=>"Variant names from HGVS. The order of these variants corresponds to the order of the info in the other clinical INFO tags."}, "CLNHGVS1"=>{"ID"=>"CLNHGVS1", "Number"=>".", "Type"=>"String", "Description"=>"Variant names from \\\"HGVS\\\". The order of these 'variants' corresponds to the order of the info in the other clinical INFO tags."}, "XXXY12"=>{"ID"=>"XXXY12"}, "Y"=>{"ID"=>"Y", "length"=>59373566}}
163
+
121
164
 
122
165
  end # test
@@ -1,5 +1,8 @@
1
1
  #! /bin/bash
2
2
 
3
- ragel -R gen_vcfheaderline_parser.rl ; ruby gen_vcfheaderline_parser.rb
3
+ ragel -R gen_vcfheaderline_parser.rl
4
+ [ $? -ne 0 ] && exit 1
5
+
6
+ ruby gen_vcfheaderline_parser.rb
4
7
 
5
8
  cp gen_vcfheaderline_parser.rb ../lib/bio-vcf/vcfheader_line.rb
@@ -1,20 +1,20 @@
1
1
  =HEADER
2
2
  <% require 'json' %>
3
- [
4
- { "HEADER": {
5
- "options": <%= options.to_h.to_json %>,
6
- "files": <%= ARGV %>,
7
- "version": "<%= BIOVCF_VERSION %>"
8
- },
9
-
10
- =BODY
11
-
12
3
  {
13
- "seq:chr": "<%= rec.chrom %>" ,
14
- "seq:pos": <%= rec.pos %> ,
15
- "seq:ref": "<%= rec.ref %>" ,
16
- "seq:alt": "<%= rec.alt[0] %>" ,
17
- "dp": <%= rec.info.dp %> ,
18
- },
4
+ "HEADER": {
5
+ "options": <%= options.to_h.to_json %>,
6
+ "files": <%= ARGV %>,
7
+ "version": "<%= BIOVCF_VERSION %>"
8
+ },
9
+ "BODY": [
10
+ =BODY
11
+ {
12
+ "seq:chr": "<%= rec.chrom %>",
13
+ "seq:pos": <%= rec.pos %>,
14
+ "seq:ref": "<%= rec.ref %>",
15
+ "seq:alt": "<%= rec.alt[0] %>",
16
+ "dp": <%= rec.info.dp %>
17
+ },
19
18
  =FOOTER
20
- ]
19
+ ]
20
+ }
@@ -1,23 +1,22 @@
1
1
  =HEADER
2
2
  <% require 'json' %>
3
- [
4
- {
3
+ {
5
4
  "HEADER": {
6
- "options": <%= options.to_h.to_json %>,
7
- "files": <%= ARGV %>,
8
- "version": "<%= BIOVCF_VERSION %>",
9
- },
5
+ "options": <%= options.to_h.to_json %>,
6
+ "files": <%= ARGV %>,
7
+ "version": "<%= BIOVCF_VERSION %>"
8
+ },
10
9
  "COLUMNS": <%= header.column_names.to_json %>,
11
- "META": <%= header.meta.to_json %>
12
- },
10
+ "META": <%= header.meta.to_json %>,
11
+ "BODY": [
13
12
  =BODY
14
-
15
- {
16
- "seq:chr": "<%= rec.chrom %>" ,
17
- "seq:pos": <%= rec.pos %> ,
18
- "seq:ref": "<%= rec.ref %>" ,
19
- "seq:alt": "<%= rec.alt[0] %>"
20
- <% if rec.info.dp %> , "dp": <%= rec.info.dp %> <% end %>
21
- },
13
+ {
14
+ "seq:chr": "<%= rec.chrom %>" ,
15
+ "seq:pos": <%= rec.pos %> ,
16
+ "seq:ref": "<%= rec.ref %>" ,
17
+ "seq:alt": "<%= rec.alt[0] %>"
18
+ <% if rec.info.dp %> , "dp": <%= rec.info.dp %> <% end %>
19
+ },
22
20
  =FOOTER
23
- ]
21
+ ]
22
+ }
@@ -1,41 +1,41 @@
1
1
  =HEADER
2
2
  <% require 'json' %>
3
- [
4
- {
3
+ {
5
4
  "HEADER": {
6
- "options": <%= options.to_h.to_json %>,
7
- "files": <%= ARGV %>,
8
- "version": "<%= BIOVCF_VERSION %>",
9
- },
5
+ "options":<%= options.to_h.to_json %>,
6
+ "files": <%= ARGV %>,
7
+ "version": "<%= BIOVCF_VERSION %>"
8
+ },
10
9
  "COLUMNS": <%= header.column_names.to_json %>,
11
- "META": <%= header.meta.to_json %>
12
- },
10
+ "META": <%= header.meta.to_json %>,
11
+ "BODY": [
13
12
  =BODY
14
- <% sample_num = 0
15
- sample_name = nil
16
- sample_size = header.samples.size
17
- %>
18
- {
19
- "seq:chr": "<%= rec.chrom %>" ,
20
- "seq:pos": <%= rec.pos %> ,
21
- "seq:ref": "<%= rec.ref %>" ,
22
- "seq:alt": "<%= rec.alt[0] %>"
23
- <% if rec.info.dp %> , "dp": <%= rec.info.dp %> <% end %>,
24
- {
25
- <% rec.each_sample do |s| %>
26
- <% if not s.empty?
27
-
28
- sample_name = header.samples[sample_num]
29
- sample_num += 1
30
- %>
31
- "<%= sample_name %>": {
32
- <% header.meta['FORMAT'].each_key do |k| %>
33
- "<%= k %>": <%= s[k].to_json %>,
34
- <% end %>
35
- } <%= (sample_num<sample_size ? "," : "") %>
36
- <% end %>
37
- <% end %>
38
- }
39
- },
13
+ <% sample_num = 0
14
+ sample_name = nil
15
+ sample_size = header.samples.size
16
+ %>
17
+ {
18
+ "seq:chr": "<%= rec.chrom %>" ,
19
+ "seq:pos": <%= rec.pos %> ,
20
+ "seq:ref": "<%= rec.ref %>" ,
21
+ "seq:alt": "<%= rec.alt[0] %>"
22
+ <% if rec.info.dp %> , "dp": <%= rec.info.dp %> <% end %>,
23
+ "samples" : {
24
+ <% rec.each_sample do |s| %>
25
+ <% if not s.empty?
26
+ sample_name = header.samples[sample_num]
27
+ %>
28
+ <%= (sample_num!=0 ? "," : "" ) %>
29
+ <% sample_num += 1%>
30
+ "<%= sample_name %>": {
31
+ <% header.meta['FORMAT'].each_key do |k| %>
32
+ "<%= k %>": <%= s[k].to_json %><%= (k==header.meta['FORMAT'].keys.last ? "" : "," ) %>
33
+ <% end %>
34
+ }
35
+ <% end %>
36
+ <% end %>
37
+ }
38
+ },
40
39
  =FOOTER
41
- ]
40
+ ]
41
+ }
@@ -0,0 +1,237 @@
1
+ ##fileformat=VCFv4.1
2
+ ##FILTER=<ID=HaplotypeScoreHigh,Description="HaplotypeScore > 13.0">
3
+ ##FILTER=<ID=LowQual,Description="Low quality">
4
+ ##FILTER=<ID=LowQualityDepth,Description="QD < 2.0">
5
+ ##FILTER=<ID=MQRankSumLow,Description="MQRankSum < -12.5">
6
+ ##FILTER=<ID=MappingQuality,Description="MQ < 40.0">
7
+ ##FILTER=<ID=ReadPosRankSumLow,Description="ReadPosRankSum < -20.0">
8
+ ##FILTER=<ID=SnpCluster,Description="SNPs found in clusters">
9
+ ##FILTER=<ID=StrandBias,Description="FS > 200.0">
10
+ ##FORMAT=<ID=AD,Number=.,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
11
+ ##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
12
+ ##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
13
+ ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
14
+ ##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
15
+ ##GATKCommandLine=<ID=CombineVariants,Version=3.2-2-gec30cee,Date="Thu Oct 30 13:41:59 CET 2014",Epoch=1414672919266,CommandLineOptions="analysis_type=CombineVariants input_file=[] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/hpc/cog_bioinf/GENOMES/Homo_sapiens.GRCh37.GATK.illumina/Homo_sapiens.GRCh37.GATK.illumina.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 refactor_NDN_cigar_string=false fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false variant=[(RodBindingCollection [(RodBinding name=variant source=/hpc/cog_bioinf/data/robert/testIAP/testSubsetExome/tmp/testSubsetExome.filtered_snps.vcf)]), (RodBindingCollection [(RodBinding name=variant2 source=/hpc/cog_bioinf/data/robert/testIAP/testSubsetExome/tmp/testSubsetExome.filtered_indels.vcf)])] out=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub genotypemergeoption=UNSORTED filteredrecordsmergetype=KEEP_IF_ANY_UNFILTERED multipleallelesmergetype=BY_TYPE rod_priority_list=null printComplexMerges=false filteredAreUncalled=false minimalVCF=false excludeNonVariants=false setKey=set assumeIdenticalSamples=false minimumN=1 suppressCommandLineHeader=false mergeInfoWithMaxAC=false filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
16
+ ##GATKCommandLine=<ID=HaplotypeCaller,Version=3.2-2-gec30cee,Date="Thu Oct 30 13:37:05 CET 2014",Epoch=1414672625371,CommandLineOptions="analysis_type=HaplotypeCaller input_file=[/hpc/cog_bioinf/data/robert/testIAP/testSubsetExome/CONTROLP26/mapping/CONTROLP26_dedup.realigned.recalibrated.bam, /hpc/cog_bioinf/data/robert/testIAP/testSubsetExome/CONTROLP25/mapping/CONTROLP25_dedup.realigned.recalibrated.bam] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=[/hpc/cog_bioinf/data/robert/testIAP/testSubsetExome/tmp/.queue/scatterGather/HaplotypeCaller-1-sg/temp_01_of_12/scatter.intervals] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/hpc/cog_bioinf/GENOMES/Homo_sapiens.GRCh37.GATK.illumina/Homo_sapiens.GRCh37.GATK.illumina.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=250 baq=OFF baqGapOpenPenalty=40.0 refactor_NDN_cigar_string=false fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false out=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub likelihoodCalculationEngine=PairHMM heterogeneousKmerSizeResolution=COMBO_MIN graphOutput=null bamOutput=null bam_compression=null disable_bam_indexing=null generate_md5=null simplifyBAM=null bamWriterType=CALLED_HAPLOTYPES dbsnp=(RodBinding name=dbsnp source=/hpc/cog_bioinf/common_scripts/GATK_v2.7/bundle/dbsnp_137.b37.vcf) dontTrimActiveRegions=false maxDiscARExtension=25 maxGGAARExtension=300 paddingAroundIndels=150 paddingAroundSNPs=20 comp=[] annotation=[ClippingRankSumTest, DepthPerSampleHC] excludeAnnotation=[SpanningDeletions, TandemRepeatAnnotator] debug=false useFilteredReadsForAnnotations=false emitRefConfidence=NONE annotateNDA=false heterozygosity=0.001 indel_heterozygosity=1.25E-4 standard_min_confidence_threshold_for_calling=30.0 standard_min_confidence_threshold_for_emitting=15.0 max_alternate_alleles=6 input_prior=[] sample_ploidy=2 genotyping_mode=DISCOVERY alleles=(RodBinding name= source=UNBOUND) contamination_fraction_to_filter=0.0 contamination_fraction_per_sample_file=null p_nonref_model=EXACT_INDEPENDENT exactcallslog=null output_mode=EMIT_VARIANTS_ONLY allSitePLs=false kmerSize=[10, 25] dontIncreaseKmerSizesForCycles=false allowNonUniqueKmersInRef=false numPruningSamples=1 recoverDanglingHeads=false doNotRecoverDanglingTails=false consensus=false GVCFGQBands=[5, 20, 60] indelSizeToEliminateInRefModel=10 min_base_quality_score=10 minPruning=2 gcpHMM=10 includeUmappedReads=false useAllelesTrigger=false phredScaledGlobalReadMismappingRate=45 maxNumHaplotypesInPopulation=128 mergeVariantsViaLD=false pair_hmm_implementation=VECTOR_LOGLESS_CACHING keepRG=null justDetermineActiveRegions=false dontGenotype=false errorCorrectKmers=false debugGraphTransformations=false dontUseSoftClippedBases=false captureAssemblyFailureBAM=false allowCyclesInKmerGraphToGeneratePaths=false noFpga=false errorCorrectReads=false kmerLengthForReadErrorCorrection=25 minObservationsForKmerToBeSolid=20 pcr_indel_model=CONSERVATIVE activityProfileOut=null activeRegionOut=null activeRegionIn=null activeRegionExtension=null forceActive=false activeRegionMaxSize=null bandPassSigma=null min_mapping_quality_score=20 filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
17
+ ##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
18
+ ##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed">
19
+ ##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
20
+ ##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities">
21
+ ##INFO=<ID=ClippingRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref number of hard clipped bases">
22
+ ##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP Membership">
23
+ ##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered">
24
+ ##INFO=<ID=DS,Number=0,Type=Flag,Description="Were any of the samples downsampled?">
25
+ ##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias">
26
+ ##INFO=<ID=HaplotypeScore,Number=1,Type=Float,Description="Consistency of the site with at most two segregating haplotypes">
27
+ ##INFO=<ID=InbreedingCoeff,Number=1,Type=Float,Description="Inbreeding coefficient as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation">
28
+ ##INFO=<ID=MLEAC,Number=A,Type=Integer,Description="Maximum likelihood expectation (MLE) for the allele counts (not necessarily the same as the AC), for each ALT allele, in the same order as listed">
29
+ ##INFO=<ID=MLEAF,Number=A,Type=Float,Description="Maximum likelihood expectation (MLE) for the allele frequency (not necessarily the same as the AF), for each ALT allele, in the same order as listed">
30
+ ##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality">
31
+ ##INFO=<ID=MQ0,Number=1,Type=Integer,Description="Total Mapping Quality Zero Reads">
32
+ ##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities">
33
+ ##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
34
+ ##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias">
35
+ ##INFO=<ID=set,Number=1,Type=String,Description="Source VCF for the merged record in CombineVariants">
36
+ ##contig=<ID=1,length=249250621>
37
+ ##contig=<ID=2,length=243199373>
38
+ ##contig=<ID=3,length=198022430>
39
+ ##contig=<ID=4,length=191154276>
40
+ ##contig=<ID=5,length=180915260>
41
+ ##contig=<ID=6,length=171115067>
42
+ ##contig=<ID=7,length=159138663>
43
+ ##contig=<ID=8,length=146364022>
44
+ ##contig=<ID=9,length=141213431>
45
+ ##contig=<ID=10,length=135534747>
46
+ ##contig=<ID=11,length=135006516>
47
+ ##contig=<ID=12,length=133851895>
48
+ ##contig=<ID=13,length=115169878>
49
+ ##contig=<ID=14,length=107349540>
50
+ ##contig=<ID=15,length=102531392>
51
+ ##contig=<ID=16,length=90354753>
52
+ ##contig=<ID=17,length=81195210>
53
+ ##contig=<ID=18,length=78077248>
54
+ ##contig=<ID=19,length=59128983>
55
+ ##contig=<ID=20,length=63025520>
56
+ ##contig=<ID=21,length=48129895>
57
+ ##contig=<ID=22,length=51304566>
58
+ ##contig=<ID=X,length=155270560>
59
+ ##contig=<ID=Y,length=59373566>
60
+ ##contig=<ID=MT,length=16569>
61
+ ##reference=file:///hpc/cog_bioinf/GENOMES/Homo_sapiens.GRCh37.GATK.illumina/Homo_sapiens.GRCh37.GATK.illumina.fasta
62
+ #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT CONTROLP25 CONTROLP26
63
+ 1 22848972 rs61769198 A C 43.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=21.59;set=Intersection GT:AD:DP:GQ:PL 1/1:0,2:2:6:69,6,0 ./.
64
+ 1 33133968 rs2762904 T C 23.19 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=11.60;set=FilteredInAll GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:49,6,0
65
+ 1 60466814 rs626251 T C 23.19 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=11.60;set=FilteredInAll GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:49,6,0
66
+ 1 60466840 rs35944236 TA T 18.20 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=9.10;set=FilteredInAll GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:53,6,0
67
+ 1 62516683 rs2498982 G C 114.46 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=28.62;set=Intersection GT:AD:DP:GQ:PL ./. 1/1:0,4:4:12:141,12,0
68
+ 1 66058513 rs1137101 A G 23.19 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=11.60;set=FilteredInAll GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:49,6,0
69
+ 1 95709821 rs259358 T C 23.19 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=11.60;set=FilteredInAll GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:49,6,0
70
+ 1 109806834 rs6698843 C T 46.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=23.08;set=Intersection GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 ./.
71
+ 1 114354942 rs3789604 T G 47.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=23.58;set=Intersection GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:73,6,0
72
+ 1 144873962 rs11341221 CT C 46.13 PASS AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=58.52;MQ0=0;QD=23.07;set=Intersection GT:AD:DP:GQ:PL 1/1:0,2:2:6:81,6,0 ./.
73
+ 1 151733335 rs8480 T G 45.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=22.59;set=Intersection GT:AD:DP:GQ:PL 1/1:0,2:2:6:71,6,0 ./.
74
+ 1 157516779 . G T 23.19 LowQual AC=2;AF=1.00;AN=2;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=11.60;set=FilteredInAll GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:49,6,0
75
+ 1 197479688 . C A 23.19 LowQual AC=2;AF=1.00;AN=2;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=11.60;set=FilteredInAll GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:49,6,0
76
+ 1 228005073 rs200455452 C T 23.19 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=11.60;set=FilteredInAll GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:49,6,0
77
+ 1 228465370 rs867599 T G 23.19 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=11.60;set=FilteredInAll GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:49,6,0
78
+ 1 231488524 rs2437150 C T 43.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=21.59;set=Intersection GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:69,6,0
79
+ 1 235505313 rs3841735 A AT 26.14 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=13.07;set=FilteredInAll GT:AD:DP:GQ:PL 1/1:0,2:2:6:61,6,0 ./.
80
+ 1 237951451 rs2256242 A G 44.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=22.09;set=Intersection GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 ./.
81
+ 2 27682309 rs61747073 C T 23.19 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=11.60;set=FilteredInAll GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:49,6,0
82
+ 2 32667182 rs60197615 G C 40.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQ0=0;QD=20.09;set=Intersection GT:AD:DP:GQ:PL ./. 1/1:0,2:2:6:66,6,0
83
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84
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