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Top Forums Shell Programming and Scripting awk to change value in field according to another Post 303025705 by bakunin on Saturday 10th of November 2018 03:55:36 AM
Old 11-10-2018
Quote:
Originally Posted by Don Cragun
may be classified as "intron",
may be classified as "exon"
may be classified as "splicing"
It certainly helps if one understands what this is all about and since it happens i have a biological researcher at home who explained it to me, here it is (errors/omissions are due to my limited understanding - i was told this is already the kindergarten version of what is really going on):

"exon", short for "expressed region", is a unit of a gene which codes something like a protein. Think of a "gene" as a text of describing something, then the "exon" would be one complete sentence of this text. When DNA is read (so that what it codes is actually produced) it is copied to "RNA"-pieces. This process is called RNA-splicing*) and these pieces contain always several whole such exons.

"intron", short for "intragenetic region" is (more or less meaningless) parts of the DNA between the exons. Think of it as some sort of punctuation and whitespace in the text. It is removed during RNA-splicing so that only the exons make it there.

*) RNA-splicing: the process of producing RNA from DNA works in several steps. First a complete DNA-piece is copied, including the introns. Then the real RNA is made from that ommitting the introns and only leaving the exons. This, in fact, is the "splicing".

In the human genome about 1% is exons (so this in fact makes up for the whole genetic information), about 25% is introns. The rest is intergenetic (that is: between genes and hence completely meaningless).

Thanks to my wife.

bakunin

Last edited by bakunin; 11-10-2018 at 05:05 AM..
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Bio::LiveSeq::Mutator(3pm)				User Contributed Perl Documentation				Bio::LiveSeq::Mutator(3pm)

NAME
Bio::LiveSeq::Mutator - Package mutating LiveSequences SYNOPSIS
# $gene is a Bio::LiveSeq::Gene object my $mutate = Bio::LiveSeq::Mutator->new('-gene' => $gene, '-numbering' => "coding" ); # $mut is a Bio::LiveSeq::Mutation object $mutate->add_Mutation($mut); # $results is a Bio::Variation::SeqDiff object my $results=$mutate->change_gene(); if ($results) { my $out = Bio::Variation::IO->new( '-format' => 'flat'); $out->write($results); } DESCRIPTION
This class mutates Bio::LiveSeq::Gene objects and returns a Bio::Variation::SeqDiff object. Mutations are described as Bio::LiveSeq::Mutation objects. See Bio::LiveSeq::Gene, Bio::Variation::SeqDiff, and Bio::LiveSeq::Mutation for details. FEEDBACK
User feedback is an integral part of the evolution of this and other Bioperl modules. Send your comments and suggestions preferably to the Bioperl mailing lists Your participation is much appreciated. bioperl-l@bioperl.org - General discussion http://bioperl.org/wiki/Mailing_lists - About the mailing lists Support Please direct usage questions or support issues to the mailing list: bioperl-l@bioperl.org 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. Reporting Bugs 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: https://redmine.open-bio.org/projects/bioperl/ AUTHOR - Heikki Lehvaslaiho &; Joseph A.L. Insana Email: heikki-at-bioperl-dot-org insana@ebi.ac.uk, jinsana@gmx.net APPENDIX
The rest of the documentation details each of the object methods. Internal methods are usually preceded with a _ gene Title : gene Usage : $mutobj = $obj->gene; : $mutobj = $obj->gene($objref); Function: Returns or sets the link-reference to a Bio::LiveSeq::Gene object. If no value has ben set, it will return undef Returns : an object reference or undef Args : a Bio::LiveSeq::Gene See Bio::LiveSeq::Gene for more information. numbering Title : numbering Usage : $obj->numbering(); Function: Sets and returns coordinate system used in positioning the mutations. See L<change_gene> for details. Example : Returns : string Args : string (coding [transcript number] | gene | entry) add_Mutation Title : add_Mutation Usage : $self->add_Mutation($ref) Function: adds a Bio::LiveSeq::Mutation object Example : Returns : Args : a Bio::LiveSeq::Mutation See Bio::LiveSeq::Mutation for more information. each_Mutation Title : each_Mutation Usage : foreach $ref ( $a->each_Mutation ) Function: gets an array of Bio::LiveSeq::Mutation objects Example : Returns : array of Mutations Args : See Bio::LiveSeq::Mutation for more information. mutation Title : mutation Usage : $mutobj = $obj->mutation; : $mutobj = $obj->mutation($objref); Function: Returns or sets the link-reference to the current mutation object. If the value is not set, it will return undef. Internal method. Returns : an object reference or undef DNA Title : DNA Usage : $mutobj = $obj->DNA; : $mutobj = $obj->DNA($objref); Function: Returns or sets the reference to the LiveSeq object holding the reference sequence. If there is no link, it will return undef. Internal method. Returns : an object reference or undef RNA Title : RNA Usage : $mutobj = $obj->RNA; : $mutobj = $obj->RNA($objref); Function: Returns or sets the reference to the LiveSeq object holding the reference sequence. If the value is not set, it will return undef. Internal method. Returns : an object reference or undef dnamut Title : dnamut Usage : $mutobj = $obj->dnamut; : $mutobj = $obj->dnamut($objref); Function: Returns or sets the reference to the current DNAMutation object. If the value is not set, it will return undef. Internal method. Returns : a Bio::Variation::DNAMutation object or undef See Bio::Variation::DNAMutation for more information. rnachange Title : rnachange Usage : $mutobj = $obj->rnachange; : $mutobj = $obj->rnachange($objref); Function: Returns or sets the reference to the current RNAChange object. If the value is not set, it will return undef. Internal method. Returns : a Bio::Variation::RNAChange object or undef See Bio::Variation::RNAChange for more information. aachange Title : aachange Usage : $mutobj = $obj->aachange; : $mutobj = $obj->aachange($objref); Function: Returns or sets the reference to the current AAChange object. If the value is not set, it will return undef. Internal method. Returns : a Bio::Variation::AAChange object or undef See Bio::Variation::AAChange for more information. exons Title : exons Usage : $mutobj = $obj->exons; : $mutobj = $obj->exons($objref); Function: Returns or sets the reference to a current array of Exons. If the value is not set, it will return undef. Internal method. Returns : an array of Bio::LiveSeq::Exon objects or undef See Bio::LiveSeq::Exon for more information. change_gene_with_alignment Title : change_gene_with_alignment Usage : $results=$mutate->change_gene_with_alignment($aln); Function: Returns a Bio::Variation::SeqDiff object containing the results of the changes in the alignment. The alignment has to be pairwise and have one sequence named 'QUERY', the other one is assumed to be a part of the sequence from $gene. This method offers a shortcut to change_gene and automates the creation of Bio::LiveSeq::Mutation objects. Use it with almost identical sequnces, e.g. to locate a SNP. Args : Bio::SimpleAlign object representing a short local alignment Returns : Bio::Variation::SeqDiff object or 0 on error See Bio::LiveSeq::Mutation, Bio::SimpleAlign, and Bio::Variation::SeqDiff for more information. create_mutation Title : create_mutation Usage : Function: Formats sequence differences from two sequences into Bio::LiveSeq::Mutation objects which can be applied to a gene. To keep it generic, sequence arguments need not to be Bio::LocatableSeq. Coordinate change to parent sequence numbering needs to be done by the calling code. Called from change_gene_with_alignment Args : Bio::PrimarySeqI inheriting object for the reference sequence Bio::PrimarySeqI inheriting object for the query sequence integer for the start position of the local sequence difference integer for the length of the sequence difference Returns : Bio::LiveSeq::Mutation object change_gene Title : change_gene Usage : my $mutate = Bio::LiveSeq::Mutator->new(-gene => $gene, numbering => "coding" ); # $mut is Bio::LiveSeq::Mutation object $mutate->add_Mutation($mut); my $results=$mutate->change_gene(); Function: Returns a Bio::Variation::SeqDiff object containing the results of the changes performed according to the instructions present in Mutation(s). The -numbering argument decides what molecule is being changed and what numbering scheme being used: -numbering => "entry" determines the DNA level, using the numbering from the beginning of the sequence -numbering => "coding" determines the RNA level, using the numbering from the beginning of the 1st transcript Alternative transcripts can be used by specifying "coding 2" or "coding 3" ... -numbering => "gene" determines the DNA level, using the numbering from the beginning of the 1st transcript and inluding introns. The meaning equals 'coding' if the reference molecule is cDNA. Args : Bio::LiveSeq::Gene object Bio::LiveSeq::Mutation object(s) string specifying a numbering scheme (defaults to 'coding') Returns : Bio::Variation::SeqDiff object or 0 on error _mutationpos2label Title : _mutationpos2label Usage : Function: converts mutation positions into labels Example : Returns : number of valid mutations Args : LiveSeq sequence object _set_DNAMutation Title : _set_DNAMutation Usage : Function: Stores DNA level mutation attributes before mutation into Bio::Variation::DNAMutation object. Links it to SeqDiff object. Example : Returns : Bio::Variation::DNAMutation object Args : Bio::Variation::SeqDiff object See Bio::Variation::DNAMutation and Bio::Variation::SeqDiff. _set_effects Title : _set_effects Usage : Function: Stores RNA and AA level mutation attributes before mutation into Bio::Variation::RNAChange and Bio::Variation::AAChange objects. Links them to SeqDiff object. Example : Returns : Args : Bio::Variation::SeqDiff object Bio::Variation::DNAMutation object See Bio::Variation::RNAChange, Bio::Variation::RNAChange, Bio::Variation::SeqDiff, and Bio::Variation::DNAMutation. _untranslated Title : _untranslated Usage : Function: Stores RNA change attributes before mutation into Bio::Variation::RNAChange object. Links it to SeqDiff object. Example : Returns : Args : Bio::Variation::SeqDiff object Bio::Variation::DNAMutation object See Bio::Variation::RNAChange, Bio::Variation::SeqDiff and Bio::Variation::DNAMutation for details. perl v5.14.2 2012-03-02 Bio::LiveSeq::Mutator(3pm)
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