App-Sandy
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$opts->{'type'} = 'vcf';
}
# Set if user wants a verbose log
$LOG_VERBOSE = $opts->{verbose};
# Go go go
log_msg ":: Inserting $opts->{'structural-variation'} from $file ...";
$self->insertdb(
$file,
$opts->{'structural-variation'},
$opts->{'source'},
1,
$opts->{'type'},
$opts->{'sample-name'}
);
log_msg ":: Done!";
}
__END__
=pod
=encoding UTF-8
=head1 NAME
App::Sandy::Command::Variation::Add - variation subcommand class. Add structural variation to the database.
=head1 VERSION
version 0.25
=head1 SYNOPSIS
sandy variation add -a <entry name> [-s <source>] FILE
Arguments:
a file (vcf or a genomic-variation file)
Mandatory options:
-a, --genomic-variation genomic-variation entries
Options:
-h, --help brief help message
-H, --man full documentation
-v, --verbose print log messages
-s, --source genomic-variation source detail for database
-n, --sample-name the sample-name present in one of the optional
vcf columns SAMPLES from which the genotype
will be extracted
=head1 DESCRIPTION
Add genomic-variation to the database. A genomic-variation may be
represented by a genomic position (seqid, position), a reference
sequence at that postion, an alternate sequence and a genotype
(homozygous or heterozygous).
=head2 INPUT
The input file may be a vcf or a custom genomic-variation file.
For vcf files, the user can point out the sample-name present in
vcf header and then its column will be used to extract the
genotype. if the user does not pass the option I<--sample-name>,
then it will be used the first sample.
===> my_variations.vcf
##fileformat=VCFv4.3
...
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA001 NA002
chr20 14370 rs81 G A 29 PASS NS=3;DP=14 GT 0/1 0/0
chr20 17330 rs82 T AAA 3 PASS NS=3;DP=20 GT 1/1 0/0
chr20 110696 rs83 A GTCT 10 PASS NS=2;DP=11 GT 0/1 1/1
...
In the I<my_variations.vcf> file, if the user does not point out the
sample I<NA002> by passing the options I<--sample-name=NA002>, the
sample I<NA001> will be used by default.
A genomic-variation file is a representation of a reduced VCF, that
is, without the columns: QUAL, FILTER, INFO and FORMAT. There is only
one SAMPLE column with the genotype for the entry in the format I<HO>
for homozygous and I<HE> for heterozygous. See the example bellow:
===> my_variations.txt
#seqid position id reference alternate genotype
chr20 14370 rs81 G A HE
chr20 17330 rs82 T AAA HO
chr20 110696 rs83 A GTCT HE
...
=head1 AUTHORS
=over 4
=item *
Thiago L. A. Miller <tmiller@mochsl.org.br>
=item *
J. Leonel Buzzo <lbuzzo@mochsl.org.br>
=item *
Felipe R. C. dos Santos <fsantos@mochsl.org.br>
=item *
Helena B. Conceição <hconceicao@mochsl.org.br>
=item *
Rodrigo Barreiro <rbarreiro@mochsl.org.br>
=item *
Gabriela Guardia <gguardia@mochsl.org.br>
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