|  line  | 
 stmt  | 
 bran  | 
 cond  | 
 sub  | 
 pod  | 
 time  | 
 code  | 
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1
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 package Convert::Pheno::BFF;  | 
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2
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    | 
| 
3
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6
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6
  
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49
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 use strict;  | 
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6
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10
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6
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204
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4
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6
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6
  
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43
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 use warnings;  | 
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6
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12
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6
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151
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5
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6
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6
  
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49
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 use autodie;  | 
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6
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19
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6
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34
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6
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6
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6
  
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33753
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 use feature qw(say);  | 
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6
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18
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6
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414
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7
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6
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6
  
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41
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 use Convert::Pheno::Mapping;  | 
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6
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24
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    | 
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6
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793
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| 
8
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6
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6
  
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47
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 use Convert::Pheno::PXF;  | 
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12
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6
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295
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9
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6
  
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36
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 use Exporter 'import';  | 
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6
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17
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6
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4385
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    | 
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10
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 our @EXPORT = qw(do_bff2pxf);  | 
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11
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12
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 #############  | 
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13
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 #############  | 
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14
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 #  BFF2PXF  #  | 
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15
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 #############  | 
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16
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 #############  | 
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17
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    | 
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18
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 sub do_bff2pxf {  | 
| 
19
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| 
20
 | 
583
 | 
 
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583
  
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0
  
 | 
756
 | 
     my ( $self, $bff ) = @_;  | 
| 
21
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    | 
| 
22
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     # Premature return  | 
| 
23
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583
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 50
  
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1260
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     return unless defined($bff);  | 
| 
24
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25
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     # Define defaults  | 
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26
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583
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720
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     my $default_timestamp = '1900-01-01T00:00:00Z';  | 
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27
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    | 
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28
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     #########################################  | 
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29
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     # START MAPPING TO PHENOPACKET V2 TERMS #  | 
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30
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     #########################################  | 
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31
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32
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     # We need to shuffle a bit some Beacon v2 properties to be Phenopacket compliant  | 
| 
33
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     # Order of terms (not alphabetical) taken from:  | 
| 
34
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     # - https://phenopacket-schema.readthedocs.io/en/latest/phenopacket.html  | 
| 
35
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    | 
| 
36
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583
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580
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     my $pxf;  | 
| 
37
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    | 
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38
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     # ==  | 
| 
39
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     # id  | 
| 
40
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     # ==  | 
| 
41
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    | 
| 
42
 | 
583
 | 
  
100
  
 | 
 
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 | 
1239
 | 
     $pxf->{id} = $self->{test} ? undef : 'phenopacket_id.' . randStr(8);  | 
| 
43
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    | 
| 
44
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     # =======  | 
| 
45
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     # subject  | 
| 
46
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     # =======  | 
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47
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    | 
| 
48
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     $pxf->{subject} = {  | 
| 
49
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         id => $bff->{id},  | 
| 
50
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    | 
| 
51
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         #alternateIds => [],  | 
| 
52
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         #_age => $bff->{info}{age}  | 
| 
53
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         #timeAtLastEncounter => {},  | 
| 
54
 | 
 
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         vitalStatus => { status => 'ALIVE' },      #["UNKNOWN_STATUS", "ALIVE", "DECEASED"]  | 
| 
55
 | 
583
 | 
 
 | 
 
 | 
 
 | 
 
 | 
2394
 | 
         sex         => uc( $bff->{sex}{label} ),  | 
| 
56
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    | 
| 
57
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         #taxonomy => {} ;  | 
| 
58
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         #_age => $bff->{info}{age}  | 
| 
59
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     };  | 
| 
60
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    | 
| 
61
 | 
 
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     # Miscellanea  | 
| 
62
 | 
583
 | 
 
 | 
 
 | 
 
 | 
 
 | 
991
 | 
     for (qw(dateOfBirth)) {  | 
| 
63
 | 
583
 | 
  
100
  
 | 
 
 | 
 
 | 
 
 | 
1710
 | 
         $pxf->{subject}{$_} = $bff->{info}{$_} if exists $bff->{info}{$_};  | 
| 
64
 | 
 
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 | 
 
 | 
 
 | 
 
 | 
 
 | 
     }  | 
| 
65
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    | 
| 
66
 | 
 
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 | 
     # karyotypicSex  | 
| 
67
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     $pxf->{subject}{karyotypicSex} = $bff->{karyotypicSex}  | 
| 
68
 | 
583
 | 
  
 50
  
 | 
 
 | 
 
 | 
 
 | 
965
 | 
       if exists $bff->{karyotypicSex};  | 
| 
69
 | 
 
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    | 
| 
70
 | 
 
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     # ===================  | 
| 
71
 | 
 
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     # phenotypicFeatures  | 
| 
72
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     # ===================  | 
| 
73
 | 
 
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    | 
| 
74
 | 
 
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 | 
 
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 | 
 
 | 
     $pxf->{phenotypicFeatures} = [  | 
| 
75
 | 
 
 | 
 
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 | 
         map {  | 
| 
76
 | 
 
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 | 
 
 | 
 
 | 
 
 | 
 
 | 
             {  | 
| 
77
 | 
 
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                 type     => delete $_->{featureType},  | 
| 
78
 | 
 
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                 excluded => delete $_->{excluded}  | 
| 
79
 | 
 
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 | 
    | 
| 
80
 | 
 
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                   #_notes => $_->{notes}  | 
| 
81
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             }  | 
| 
82
 | 
243
 | 
 
 | 
 
 | 
 
 | 
 
 | 
942
 | 
         } @{ $bff->{phenotypicFeatures} }  | 
| 
 
 | 
124
 | 
 
 | 
 
 | 
 
 | 
 
 | 
241
 | 
    | 
| 
83
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
       ]  | 
| 
84
 | 
583
 | 
  
100
  
 | 
 
 | 
 
 | 
 
 | 
1018
 | 
       if defined $bff->{phenotypicFeatures};  | 
| 
85
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
86
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # ============  | 
| 
87
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # measurements  | 
| 
88
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # ============  | 
| 
89
 | 
583
 | 
  
100
  
 | 
 
 | 
 
 | 
 
 | 
930
 | 
     if ( defined $bff->{measures} ) {  | 
| 
90
 | 
83
 | 
 
 | 
 
 | 
 
 | 
 
 | 
109
 | 
         $pxf->{measurements} = [];    # Initialize as an empty array reference  | 
| 
91
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
92
 | 
83
 | 
 
 | 
 
 | 
 
 | 
 
 | 
92
 | 
         for my $measure ( @{ $bff->{measures} } ) {  | 
| 
 
 | 
83
 | 
 
 | 
 
 | 
 
 | 
 
 | 
135
 | 
    | 
| 
93
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
94
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             # Check if measurementValue hash contain the typedQuantities key  | 
| 
95
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             my $has_typedQuantities =  | 
| 
96
 | 
1147
 | 
  
 50
  
 | 
 
 | 
 
 | 
 
 | 
2059
 | 
               exists $measure->{measurementValue}{typedQuantities} ? 1 : 0;  | 
| 
97
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
98
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             # Construct the hash  | 
| 
99
 | 
1147
 | 
 
 | 
 
 | 
 
 | 
 
 | 
1872
 | 
             my $result = { assay => $measure->{assayCode} };  | 
| 
100
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
101
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             # Add the complexValue key if typedQuantities was found  | 
| 
102
 | 
1147
 | 
  
 50
  
 | 
 
 | 
 
 | 
 
 | 
1322
 | 
             if ($has_typedQuantities) {  | 
| 
103
 | 
0
 | 
 
 | 
 
 | 
 
 | 
 
 | 
0
 | 
                 $result->{complexValue} = $measure->{measurementValue};  | 
| 
104
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             }  | 
| 
105
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             else {  | 
| 
106
 | 
1147
 | 
 
 | 
 
 | 
 
 | 
 
 | 
1252
 | 
                 $result->{value} = $measure->{measurementValue};  | 
| 
107
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
108
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             }  | 
| 
109
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
110
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             # Push the resulting hash onto the pxf measurements array  | 
| 
111
 | 
1147
 | 
 
 | 
 
 | 
 
 | 
 
 | 
1046
 | 
             push @{ $pxf->{measurements} }, $result;  | 
| 
 
 | 
1147
 | 
 
 | 
 
 | 
 
 | 
 
 | 
1740
 | 
    | 
| 
112
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
         }  | 
| 
113
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     }  | 
| 
114
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
115
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # ==========  | 
| 
116
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # biosamples  | 
| 
117
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # ==========  | 
| 
118
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
119
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # ===============  | 
| 
120
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # interpretations  | 
| 
121
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # ===============  | 
| 
122
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
123
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #$bff->{interpretation} = {};  | 
| 
124
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
125
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # ========  | 
| 
126
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # diseases  | 
| 
127
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # ========  | 
| 
128
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
129
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     $pxf->{diseases} =  | 
| 
130
 | 
569
 | 
 
 | 
 
 | 
 
 | 
 
 | 
1454
 | 
       [ map { { term => $_->{diseaseCode}, onset => $_->{ageOfOnset} } }  | 
| 
131
 | 
583
 | 
 
 | 
 
 | 
 
 | 
 
 | 
662
 | 
           @{ $bff->{diseases} } ];  | 
| 
 
 | 
583
 | 
 
 | 
 
 | 
 
 | 
 
 | 
1234
 | 
    | 
| 
132
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
133
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # ===============  | 
| 
134
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # medicalActions  | 
| 
135
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # ===============  | 
| 
136
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
137
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # **** procedures ****  | 
| 
138
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     my @procedures = map {  | 
| 
139
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
         {  | 
| 
140
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             procedure => {  | 
| 
141
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
                 code      => $_->{procedureCode},  | 
| 
142
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
                 performed => {  | 
| 
143
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
                     timestamp => exists $_->{dateOfProcedure}  | 
| 
144
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
                     ? _map2iso8601( $_->{dateOfProcedure} )  | 
| 
145
 | 
576
 | 
  
100
  
 | 
 
 | 
 
 | 
 
 | 
1531
 | 
                     : $default_timestamp  | 
| 
146
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
                 }  | 
| 
147
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             }  | 
| 
148
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
         }  | 
| 
149
 | 
583
 | 
 
 | 
 
 | 
 
 | 
 
 | 
727
 | 
     } @{ $bff->{interventionsOrProcedures} };  | 
| 
 
 | 
583
 | 
 
 | 
 
 | 
 
 | 
 
 | 
1139
 | 
    | 
| 
150
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
151
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # **** treatments ****  | 
| 
152
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     my @treatments = map {  | 
| 
153
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
         {  | 
| 
154
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             treatment => {  | 
| 
155
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
                 agent                 => $_->{treatmentCode},  | 
| 
156
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
                 routeOfAdministration => $_->{routeOfAdministration},  | 
| 
157
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
                 doseIntervals         => $_->{doseIntervals}  | 
| 
158
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
159
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
                   #performed => { timestamp => exists $_->{dateOfProcedure} ? $_->{dateOfProcedure} : undef}  | 
| 
160
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
             }  | 
| 
161
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
         }  | 
| 
162
 | 
583
 | 
 
 | 
 
 | 
 
 | 
 
 | 
840
 | 
     } @{ $bff->{treatments} };  | 
| 
 
 | 
300
 | 
 
 | 
 
 | 
 
 | 
 
 | 
1048
 | 
    | 
| 
 
 | 
583
 | 
 
 | 
 
 | 
 
 | 
 
 | 
1420
 | 
    | 
| 
163
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
164
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # Load  | 
| 
165
 | 
583
 | 
  
100
  
 | 
 
 | 
 
 | 
 
 | 
1030
 | 
     push @{ $pxf->{medicalActions} }, @procedures if @procedures;  | 
| 
 
 | 
157
 | 
 
 | 
 
 | 
 
 | 
 
 | 
399
 | 
    | 
| 
166
 | 
583
 | 
  
100
  
 | 
 
 | 
 
 | 
 
 | 
859
 | 
     push @{ $pxf->{medicalActions} }, @treatments if @treatments;  | 
| 
 
 | 
48
 | 
 
 | 
 
 | 
 
 | 
 
 | 
157
 | 
    | 
| 
167
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
168
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # =====  | 
| 
169
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # files  | 
| 
170
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # =====  | 
| 
171
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
172
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # =========  | 
| 
173
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # metaData  | 
| 
174
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # =========  | 
| 
175
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
176
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # Depending on the origion (redcap) , _info and resources may exist  | 
| 
177
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     $pxf->{metaData} =  | 
| 
178
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
         $self->{test}                 ? undef  | 
| 
179
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
       : exists $bff->{info}{metaData} ? $bff->{info}{metaData}  | 
| 
180
 | 
583
 | 
  
 50
  
 | 
 
 | 
 
 | 
 
 | 
1186
 | 
       :                                 get_metaData($self);  | 
| 
 
 | 
 
 | 
  
100
  
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
181
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
182
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # =========  | 
| 
183
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # exposures  | 
| 
184
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # =========  | 
| 
185
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
186
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # Can't be mapped as Sept-2023 from pxf-tools  | 
| 
187
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # Message type "org.phenopackets.schema.v2.Phenopacket" has no field named "exposures" at "Phenopacket".  | 
| 
188
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #  Available Fields(except extensions): "['id', 'subject', 'phenotypicFeatures', 'measurements', 'biosamples', 'interpretations', 'diseases', 'medicalActions', 'files', 'metaData']" at line 22  | 
| 
189
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
190
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #   $pxf->{exposures} =  | 
| 
191
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #  | 
| 
192
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #      [  | 
| 
193
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #        map {  | 
| 
194
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #            {  | 
| 
195
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #                type       => $_->{exposureCode},  | 
| 
196
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #                occurrence => { timestamp => $_->{date} }  | 
| 
197
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #            }  | 
| 
198
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #        } @{ $bff->{exposures} }  | 
| 
199
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #      ]  | 
| 
200
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #      if exists $bff->{exposures};  | 
| 
201
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
202
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #######################################  | 
| 
203
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     # END MAPPING TO PHENOPACKET V2 TERMS #  | 
| 
204
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
     #######################################  | 
| 
205
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
206
 | 
583
 | 
 
 | 
 
 | 
 
 | 
 
 | 
1355
 | 
     return $pxf;  | 
| 
207
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 }  | 
| 
208
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
    | 
| 
209
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 
 | 
 1;  |