| BioPerl documentation | Contained in the BioPerl distribution. |
Bio::Phenotype::OMIM::OMIMentry - represents OMIM (Online Mendelian Inheritance in Man) database entries
$obj = Bio::Phenotype::OMIM::OMIMentry->new( -mim_number => 200000,
-description => "This is ...",
-more_than_two_genes => 1 );
Inherits from Bio::Phenotype::PhenotypeI. Bio::Phenotype::OMIM::OMIMparser parses the flat file representation of OMIM (i.e. files "omim.txt" and "genemap") returning OMIMentry objects.
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Please direct usage questions or support issues to the mailing list:
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rather than to the module maintainer directly. Many experienced and reponsive experts will be able look at the problem and quickly address it. Please include a thorough description of the problem with code and data examples if at all possible.
report bugs to the Bioperl bug tracking system to help us keep track the bugs and their resolution. Bug reports can be submitted via the web:
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Christian M. Zmasek
Email: czmasek-at-burnham.org or cmzmasek@yahoo.com
WWW: http://monochrome-effect.net/
Address:
Genomics Institute of the Novartis Research Foundation 10675 John Jay Hopkins Drive San Diego, CA 92121
The rest of the documentation details each of the object methods. Internal methods are usually preceded with a _
Title : new
Usage : $obj = Bio::Phenotype::OMIM::OMIMentry->new( -mim_number => 200000,
-description => "This is ...",
-more_than_two_genes => 1 );
Function: Creates a new OMIMentry object.
Returns : A new OMIMentry object.
Args : -mim_number => the MIM number
-title => the title or name
-alternative_titles_and_symbols => the "alternative titles and symbols"
-more_than_two_genes => can phenotype can be caused by mutation in any of two or more genes?
-is_separate => is this phenotype separate from those represented by other entries
-description => the description of this phenotype
-mapping_method => the mapping method
-gene_status => the gene status of this
-comment => a comment
-species => ref to the the species (human)
-created => created by whom/when
-edited => edited by whom/when
-contributors => contributed by whom/when
-additional_references => "see also"
-clinical_symptoms => the clinical symptoms
-minimim => the Mini MIM associated with this OMIM antry
Title : init() Usage : $obj->init(); Function: Initializes this OMIMentry to all "" and empty lists. Returns : Args :
Title : MIM_number
Usage : $omim->MIM_number( "100050" );
or
print $omim->MIM_number();
Function: Set/get for the MIM number of this OMIM entry.
Returns : The MIM number [an integer larger than 100000].
Args : The MIM number [an integer larger than 100000] (optional).
Title : title
Usage : $omim->title( "AARSKOG SYNDROME" );
or
print $omim->title();
Function: Set/get for the title or name of this OMIM entry.
This method is an alias to the method "name" of
Bio::Phenotype::PhenotypeI.
Returns : The title [scalar].
Args : The title [scalar] (optional).
Title : alternative_titles_and_symbols
Usage : $omim->alternative_titles_and_symbols( "AORTIC ANEURYSM, ABDOMINAL" );
or
print $omim->alternative_titles_and_symbols();
Function: Set/get for the "alternative titles and symbols" of this OMIM entry.
Currently, everything after the first line of title (TI) field is
considered "alternative titles and symbols".
Returns : "alternative titles and symbols" [scalar].
Args : "alternative titles and symbols" [scalar] (optional).
Title : more_than_two_genes
Usage : $omim->more_than_two_genes( 1 );
or
print $omim->more_than_two_genes();
Function: This is true if this phenotype can be caused
by mutation in any of two or more genes.
In OMIM, this is indicated by a number symbol (#)
before an entry number (e.g. #114480 -- BREAST CANCER).
Returns : [1 or 0].
Args : [1 or 0] (optional).
Title : is_separate
Usage : $omim->is_separate( 1 );
or
print $omim->is_separate();
Function: This is true if the phenotype determined by the gene at
the given locus is separate from those represented by
other entries where "is_separate" is true and if the mode
of inheritance of the phenotype has been proved
(in the judgment of the authors and editors).
In OMIM, this is indicated by a asterisk (*)
before an entry number (e.g. *113705 BREAST CANCER,
TYPE 1; BRCA1).
Returns : [1 or 0].
Args : [1 or 0] (optional).
Title : mapping_method
Usage : $omim->mapping_method( "PCR of somatic cell hybrid DNA" );
or
print $omim->mapping_method();
Function: Set/get for the mapping method of this OMIM entry.
Returns : The mapping method [scalar].
Args : The mapping method [scalar] (optional).
Title : gene_status
Usage : $omim->gene_status( "C" );
or
print $omim->gene_status();
Function: Set/get for the gene status of this OMIM entry.
The certainty with which assignment of loci to chromosomes or the linkage
between two loci has been established has been graded into the following
classes:
<L>C = confirmed - observed in at least two laboratories or in several families.
<L>P = provisional - based on evidence from one laboratory or one family.
<L>I = inconsistent - results of different laboratories disagree.
<L>L = limbo - evidence not as strong as that provisional, but included for
heuristic reasons. (Same as `tentative'.)
Returns : [C, P, I, or L].
Args : [C, P, I, or L] (optional).
Title : clinical_symptoms
Usage : $omim->clinical_symptoms({});
Function: Set/get for the clinical symptoms of this OMIM entry.
Returns : [hash reference].
Args : [hash reference]. Suggested not to assign alone. Parser will do.
Title : clinical_symptoms_raw
Usage : $omim->clinical_symptoms( "Patients with ..." );
print $omim->clinical_symptoms();
Functions : Get/set for text information of clinical symptoms
Returns : The clinical symptoms [scalar].
Args : The clinical symptoms [scalar] (optional).
Title : add_clinical_symptoms
Usage : $entry->add_clinical_symptoms('Ears', 'Floppy ears', 'Lop-ears');
Function : add one or more symptoms on one part of body.
Returns : [none]
Args : ($part, @symptoms)
$part, the text name of part/organism of human
@symptoms, an array of text description
Title : get_clinical_symptoms
Usage : @symptoms = $self->query_clinical_symptoms('Ears');
Function : get all symptoms specific to one part/organism.
Returns : an array of text
Args : $organ
Title : created
Usage : $omim->created( "Victor A. McKusick: 6/4/1986" );
or
print $omim->created();
Function: Set/get for the created field of the OMIM database.
Returns : Name(s) and date(s) [scalar - free form].
Args : Name(s) and date(s) [scalar - free form] (optional).
Title : contributors
Usage : $omim->contributors( "Kelly A. Przylepa - revised: 03/18/2002" );
or
print $omim->contributors();
Function: Set/get for the contributors field of the OMIM database.
Returns : Name(s) and date(s) [scalar - free form].
Args : Name(s) and date(s) [scalar - free form] (optional).
Title : edited
Usage : $omim->edited( "alopez: 06/03/1997" );
or
print $omim->edited();
Function: Set/get for the edited field of the OMIM database.
Returns : Name(s) and date(s) [scalar - free form].
Args : Name(s) and date(s) [scalar - free form] (optional).
Title : additional_references
Usage : $omim->additional_references( "Miller er al." );
or
print $omim->additional_references();
Function: Set/get for the additional references of this OMIM antry
(see also).
Returns : additional reference [scalar].
Args : additional reference [scalar] (optional).
Title : miniMIM
Usage : $omim->miniMIM( $MM );
or
$MM = $omim->miniMIM();
Function: Set/get for the Mini MIM associated with this OMIM antry
(see also).
Returns : [Bio::Phenotype::OMIM::MiniMIMentry].
Args : [Bio::Phenotype::OMIM::MiniMIMentry] (optional).
Title : each_AllelicVariant()
Usage : @avs = $obj->each_AllelicVariant();
Function: Returns a list of Bio::Phenotype::OMIM::OMIMentryAllelicVariant objects
associated with this OMIM entry.
Returns : A list of Bio::Phenotype::OMIM::OMIMentryAllelicVariant objects.
Args :
Title : add_AllelicVariants
Usage : $obj->add_AllelicVariants( @avs );
or
$obj->add_AllelicVariants( $av );
Function: Pushes one or more OMIMentryAllelicVariant
into the list of OMIMentryAllelicVariants.
Returns :
Args : Bio::Phenotype::OMIM::OMIMentryAllelicVariant object(s).
Title : remove_AllelicVariants
Usage : $obj->remove_AllelicVariants();
Function: Deletes (and returns) the list of OMIMentryAllelicVariant objects
associated with this OMIM entry.
Returns : A list of OMIMentryAllelicVariant objects.
Args :
| BioPerl documentation | Contained in the BioPerl distribution. |
# # BioPerl module for Bio::Phenotype::OMIM::OMIMentry # # Please direct questions and support issues to <bioperl-l@bioperl.org> # # Cared for by Christian M. Zmasek <czmasek-at-burnham.org> or <cmzmasek@yahoo.com> # # (c) Christian M. Zmasek, czmasek-at-burnham.org, 2002. # (c) GNF, Genomics Institute of the Novartis Research Foundation, 2002. # # You may distribute this module under the same terms as perl itself. # Refer to the Perl Artistic License (see the license accompanying this # software package, or see http://www.perl.com/language/misc/Artistic.html) # for the terms under which you may use, modify, and redistribute this module. # # THIS PACKAGE IS PROVIDED "AS IS" AND WITHOUT ANY EXPRESS OR IMPLIED # WARRANTIES, INCLUDING, WITHOUT LIMITATION, THE IMPLIED WARRANTIES OF # MERCHANTIBILITY AND FITNESS FOR A PARTICULAR PURPOSE. # # You may distribute this module under the same terms as perl itself # POD documentation - main docs before the code
# Let the code begin... package Bio::Phenotype::OMIM::OMIMentry; use strict; use Bio::Phenotype::OMIM::MiniMIMentry; use Bio::Phenotype::OMIM::OMIMentryAllelicVariant; use constant TRUE => 1; use constant FALSE => 0; use constant DEFAULT_MIM_NUMER => 0; use base qw(Bio::Phenotype::Phenotype);
sub new { my( $class,@args ) = @_; my $self = $class->SUPER::new( @args ); my ( $mim_number, $title, $alternative_titles_and_symbols, $more_than_two_genes, $is_separate, $description, $mapping_method, $gene_status, $comment, $species, $created, $edited, $contributors, $additional_references, $clinical_symptoms, $miniMIM ) = $self->_rearrange( [ qw( MIM_NUMBER TITLE ALTERNATIVE_TITLES_AND_SYMBOLS MORE_THAN_TWO_GENES IS_SEPARATE DESCRIPTION MAPPING_METHOD GENE_STATUS COMMENT SPECIES CREATED EDITED CONTRIBUTORS ADDITIONAL_REFERENCES CLINICAL_SYMPTOMS MINIMIM ) ], @args ); $self->init(); $mim_number && $self->MIM_number( $mim_number ); $title && $self->title( $title ); $alternative_titles_and_symbols && $self->alternative_titles_and_symbols( $alternative_titles_and_symbols ); $more_than_two_genes && $self->more_than_two_genes( $more_than_two_genes ); $is_separate && $self->is_separate( $is_separate ); $description && $self->description( $description ); $mapping_method && $self->mapping_method( $mapping_method ); $gene_status && $self->gene_status( $gene_status ); $comment && $self->comment( $comment ); $species && $self->species( $species ); $created && $self->created( $created ); $edited && $self->edited( $edited ); $contributors && $self->contributors( $contributors ); $additional_references && $self->additional_references( $additional_references ); $clinical_symptoms && $self->clinical_symptoms_raw( $clinical_symptoms ); $miniMIM && $self->miniMIM( $miniMIM ); return $self; } # new
sub init { my( $self ) = @_; $self->MIM_number( DEFAULT_MIM_NUMER ); $self->title( "" ); $self->alternative_titles_and_symbols( "" ); $self->more_than_two_genes( FALSE ); $self->is_separate( FALSE ); $self->description( "" ); $self->mapping_method( "" ); $self->gene_status( "" ); $self->comment( "" ); my $species = Bio::Species->new(); $species->classification( qw( sapiens Homo ) ); $self->species( $species ); $self->created( "" ); $self->edited( "" ); $self->contributors( "" ); $self->additional_references( "" ); $self->clinical_symptoms( {} ); $self->remove_Correlates(); $self->remove_References(); $self->remove_AllelicVariants(); $self->remove_CytoPositions(); $self->remove_gene_symbols(); $self->remove_Genotypes(); $self->remove_DBLinks(); $self->remove_keywords(); $self->remove_Variants(); $self->remove_Measures(); $self->miniMIM( Bio::Phenotype::OMIM::MiniMIMentry->new() ); } # init sub to_string { my( $self ) = @_; my $s = ""; $s .= "-- MIM number:\n"; $s .= $self->MIM_number()."\n\n"; $s .= "-- Title:\n"; $s .= $self->title()."\n\n"; $s .= "-- Alternative Titles and Symbols:\n"; $s .= $self->alternative_titles_and_symbols()."\n\n"; $s .= "-- Can be caused by Mutation in any of two or more Genes:\n"; $s .= $self->more_than_two_genes()."\n\n"; $s .= "-- Phenotype is separate:\n"; $s .= $self->is_separate()."\n\n"; $s .= "-- Description:\n"; $s .= $self->description()."\n\n"; $s .= "-- Species:\n"; $s .= $self->species()->binomial()."\n\n"; $s .= "-- Clinical Symptoms:\n"; $s .= $self->clinical_symptoms()."\n\n"; $s .= "-- Allelic Variants:\n"; $s .= $self->_array_to_string( $self->each_AllelicVariant() )."\n"; $s .= "-- Cyto Positions:\n"; $s .= $self->_array_to_string( $self->each_CytoPosition() )."\n"; $s .= "-- Gene Symbols:\n"; $s .= $self->_array_to_string( $self->each_gene_symbol() )."\n"; $s .= "-- Correlates:\n"; $s .= $self->_array_to_string( $self->each_Correlate() )."\n"; $s .= "-- References:\n"; $s .= $self->_array_to_string( $self->each_Reference() )."\n"; $s .= "-- Additional References:\n"; $s .= $self->additional_references()."\n\n"; $s .= "-- Mapping Method:\n"; $s .= $self->mapping_method()."\n\n"; $s .= "-- Gene status:\n"; $s .= $self->gene_status()."\n\n"; $s .= "-- Created:\n"; $s .= $self->created()."\n\n"; $s .= "-- Contributors:\n"; $s .= $self->contributors()."\n\n"; $s .= "-- Edited:\n"; $s .= $self->edited()."\n\n"; $s .= "-- Comment:\n"; $s .= $self->comment()."\n\n"; $s .= "-- MiniMIM:\n"; $s .= $self->miniMIM()->to_string()."\n\n"; return $s; } # to_string
sub MIM_number { my ( $self, $value ) = @_; if ( defined $value ) { if ( $value =~ /\D/ || ( $value < 100000 && $value != DEFAULT_MIM_NUMER ) ) { $self->throw( "Found [$value]" . " where [integer larger than 100000] expected" ); } $self->{ "_MIM_number" } = $value; } return $self->{ "_MIM_number" }; } # MIM_number
sub title { my $self = shift; $self->name(@_); } # title
sub alternative_titles_and_symbols { my ( $self, $value ) = @_; if ( defined $value ) { $self->{ "_alternative_titles_and_symbols" } = $value; } return $self->{ "_alternative_titles_and_symbols" }; } # alternative_titles_and_symbols
sub more_than_two_genes { my ( $self, $value ) = @_; if ( defined $value ) { $self->_is_true_or_false( $value ); $self->{ "_more_than_two_genes" } = $value; } return $self->{ "_more_than_two_genes" }; } # more_than_two_genes
sub is_separate { my ( $self, $value ) = @_; if ( defined $value ) { $self->_is_true_or_false( $value ); $self->{ "_is_separate" } = $value; } return $self->{ "_is_separate" }; } # is_separate
sub mapping_method { my $self = shift; return $self->{ "_mapping_method" } = shift if(@_); return $self->{ "_mapping_method" }; } # mapping_method
sub gene_status { my ( $self, $value ) = @_; if ( defined $value ) { #unless ( $value eq "C" # || $value eq "P" # || $value eq "I" # || $value eq "L" # || $value eq "A" # !? # || $value eq "H" # !? # || $value eq "U" # !? # || $value eq "" ) { # $self->throw( "Found [$value]" # . " where [C, P, I, or L] expected" ); #} unless ( $value eq "C" || $value eq "P" || $value eq "I" || $value eq "L" || $value eq "" ) { $value = ""; } $self->{ "_gene_status" } = $value; } return $self->{ "_gene_status" }; } # gene_status
sub clinical_symptoms { my ( $self, $value ) = @_; if ( defined $value ) { unless(ref($value) eq 'HASH'){ $self->throw('a hash referenced needed'); } $self->{ "_clinical_symptoms" } = $value; } return $self->{ "_clinical_symptoms" }; } # clinical_symptoms
sub clinical_symptoms_raw { my $self = shift; return $self->{_clinical_symptoms_raw} = shift if @_; return $self->{_clinical_symptoms_raw}; }
sub add_clinical_symptoms { my ($self, $part, @symptoms) = @_; unless(defined $part){ $self->throw('a part/organism must be assigned'); } $self->{_clinical_symptoms} = {} unless $self->{_clinical_symptoms}; $self->{_clinical_symptoms}->{$part} = [] unless $self->{_clinical_symptoms}->{$part}; push @{$self->{_clinical_symptoms}->{$part}}, @symptoms; }
sub query_clinical_symptoms { my ($self, $organ)=@_; my $symptoms=$self->{_clinical_symptoms}->{$organ}; @$symptoms; } sub get_clinical_symptom_organs { my ($self)=@_; keys %{$self->{_clinical_symptoms}}; }
sub created { my $self = shift; return $self->{ "_created" } = shift if(@_); return $self->{ "_created" }; } # created
sub contributors { my $self = shift; $self->{ "_contributors" } = shift if(@_); return $self->{ "_contributors" }; } # contributors
sub edited { my $self = shift; return $self->{ "_edited" } = shift if(@_); return $self->{ "_edited" }; } # edited
sub additional_references { my $self = shift; return $self->{ "_additional_references" } = shift if(@_); return $self->{ "_additional_references" }; } # additional_references
sub miniMIM { my ( $self, $value ) = @_; if ( defined $value ) { $self->_check_ref_type( $value, "Bio::Phenotype::OMIM::MiniMIMentry" ); $self->{ "_mini_mim" } = $value; } return $self->{ "_mini_mim" }; }
sub each_AllelicVariant { my ( $self ) = @_; return @{$self->{"_allelic_variants"}} if exists($self->{"_allelic_variants"}); return (); } # each_AllelicVariant
sub add_AllelicVariants { my ( $self, @values ) = @_; return unless( @values ); foreach my $value ( @values ) { $self->_check_ref_type( $value, "Bio::Phenotype::OMIM::OMIMentryAllelicVariant" ); } push( @{ $self->{ "_allelic_variants" } }, @values ); } # add_AllelicVariants
sub remove_AllelicVariants { my ( $self ) = @_; my @a = $self->each_AllelicVariant(); $self->{ "_allelic_variants" } = []; return @a; } # remove_AllelicVariants # Title : _array_to_string # Function: # Returns : # Args : sub _array_to_string { my( $self, @value ) = @_; my $s = ""; for ( my $i = 0; $i < scalar( @value ); ++$i ) { if ( ! ref( $value[ $i ] ) ) { $s .= "#" . $i . "\n-- Value:\n" . $value[ $i ] . "\n"; } elsif ( $value[ $i ]->isa( "Bio::Phenotype::OMIM::OMIMentryAllelicVariant" ) || $value[ $i ]->isa( "Bio::Phenotype::Correlate" ) ) { $s .= "#" . $i . "\n" . ( $value[ $i ] )->to_string() . "\n"; } elsif ( $value[ $i ]->isa( "Bio::Annotation::Reference" ) ) { $s .= "#".$i."\n-- Authors:\n".( $value[ $i ] )->authors()."\n"; $s .= "-- Title:\n".( $value[ $i ] )->title()."\n"; $s .= "-- Location:\n".( $value[ $i ] )->location()."\n"; } elsif ( $value[ $i ]->isa( "Bio::Map::CytoPosition" ) ) { $s .= "#" . $i . "\n-- Value:\n" . ( $value[ $i ] )->value() . "\n"; } } return $s; } # _array_to_string # Title :_is_true_or_false # Function: Checks whether the argument is 1 or 0. # Returns : # Args : The value to be checked. sub _is_true_or_false { my ( $self, $value ) = @_; unless ( $value !~ /\D/ && ( $value == TRUE || $value == FALSE ) ) { $self->throw( "Found [" . $value . "] where " . TRUE . " or " . FALSE . " expected" ); } } # _is_true_or_false 1;