hgvs 采用标准转录本
parent
157fa94ef8
commit
778d55ed5b
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@ -189,12 +189,12 @@ while (<IN>) {
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push @reason, 'not_need_spl_inron';
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push @reason, 'not_need_spl_inron';
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}
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}
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my @hgvs = split(/,/, $line[9]);
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my @hgvs = split(/,/, $line[9]);
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my $hgvs = $hgvs[0];
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# my $hgvs = $hgvs[0];
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my $transcript_gene;
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my $transcript_gene;
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$transcript_gene = $transcript{$gene} if (exists $transcript{$gene});
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$transcript_gene = $transcript{$gene} if (exists $transcript{$gene});
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my $hgvs;
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if (grep {/$transcript_gene/} @hgvs) {
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if (grep {/$transcript_gene/} @hgvs) {
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$hgvs = (grep {/$transcript_gene/} @hgvs)[0];
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$hgvs = (grep {/$transcript_gene/} @hgvs)[0];
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}
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$line[9] = $hgvs;
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$line[9] = $hgvs;
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$hgvs =~ /:(NM_\d+):exon\d+:(c\.\S+):p\.(\S+)$/;
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$hgvs =~ /:(NM_\d+):exon\d+:(c\.\S+):p\.(\S+)$/;
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@ -202,6 +202,10 @@ while (<IN>) {
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if ($protein =~ /\d+X$|\d+\*$/ or $line[8] eq 'stopgain' or $line[8] eq 'frameshift deletion' or $line[8] eq 'frameshift insertion') {
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if ($protein =~ /\d+X$|\d+\*$/ or $line[8] eq 'stopgain' or $line[8] eq 'frameshift deletion' or $line[8] eq 'frameshift insertion') {
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$protein = 'Truncating Mutations';
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$protein = 'Truncating Mutations';
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}
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}
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}
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else {
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push @reason, 'not_correct_hgvs';
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}
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}
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}
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