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    Hi Will,<br>
    <br>
    Thanks for your answer.<br>
    How important is the biotype for the predictions ?<br>
    <br>
    Best regrads,<br>
    <br>
    Sabrina<br>
    <br>
    <div class="moz-cite-prefix">Le 22/05/2017 18:02, Will McLaren a
      écrit :<br>
    </div>
    <blockquote
cite="mid:CAMVEDX0wG+6Wggx4=DoNq_JU_geMWu89jHxHQfe9NE5DtJXFMQ@mail.gmail.com"
      type="cite">
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      <div dir="ltr">Hi Sabrina,
        <div><br>
          There's a few issues with your GTF; if you correct them then
          it should work.</div>
        <div><br>
        </div>
        <div>1) IDs should not be shared by transcripts and genes. In
          your example, I fixed this by prefixing the gene ID with "g_"
          and the transcript ID with "t_"</div>
        <div><br>
        </div>
        <div>2) Transcript entries need a valid biotype; typically this
          will be "protein_coding" (see <a moz-do-not-send="true"
href="http://www.ensembl.org/info/docs/tools/vep/script/vep_cache.html#gff">http://www.ensembl.org/info/docs/tools/vep/script/vep_cache.html#gff</a>)</div>
        <div><br>
        </div>
        <div>3) The phase field must be correctly set for CDS entries.</div>
        <div><br>
        </div>
        <div>These points also apply if you use a GFF format file.</div>
        <div><br>
        </div>
        <div>Hope that helps</div>
        <div><br>
        </div>
        <div>Will McLaren</div>
        <div>Ensembl Variation</div>
      </div>
      <div class="gmail_extra"><br>
        <div class="gmail_quote">On 22 May 2017 at 12:36, Sabrina
          Legoueix-Rodriguez <span dir="ltr"><<a
              moz-do-not-send="true"
              href="mailto:sabrina.legoueix@inra.fr" target="_blank"><a class="moz-txt-link-abbreviated" href="mailto:sabrina.legoueix@inra.fr">sabrina.legoueix@inra.fr</a></a>></span>
          wrote:<br>
          <blockquote class="gmail_quote" style="margin:0 0 0
            .8ex;border-left:1px #ccc solid;padding-left:1ex">
            <div text="#000000" bgcolor="#FFFFFF"> Dear all,<br>
              <br>
              I have installed on my machine your recent vep API locally
              to use a home made genome in order to get SNPs
              annotations.<br>
              <br>
              I used the instructions on these pages:<br>
              <a moz-do-not-send="true"
                class="m_5616784093623879695moz-txt-link-freetext"
href="http://www.ensembl.org/info/docs/tools/vep/script/vep_cache.html#offline"
                target="_blank">http://www.ensembl.org/info/<wbr>docs/tools/vep/script/vep_<wbr>cache.html#offline</a><br>
              <a moz-do-not-send="true"
                class="m_5616784093623879695moz-txt-link-freetext"
                href="http://www.ensembl.org/info/docs/tools/vep/script/index.html"
                target="_blank">http://www.ensembl.org/info/<wbr>docs/tools/vep/script/index.<wbr>html</a><br>
              <br>
              My inputs are:<br>
              -> a home made reference genome in fasta file<br>
              -> a .VCF file with SNPs list on that genome<br>
              -> a .GTF file with genome annotations<br>
              <br>
              My goal is to use vep to generate a .vep file with
              functionnal annotations of my SNPs.<br>
              <br>
              For instance:<br>
              <br>
              my gtf is:<br>
              tig00000004_pilon_pilon    Pacbio    gene    231183   
              234374    .    +    .    gene_id "A";    <br>
              tig00000004_pilon_pilon    Pacbio    transcript   
              231183    234374    .    +    .    gene_id
              "A";transcript_id "A";    <br>
              tig00000004_pilon_pilon    Pacbio    CDS    231183   
              234374    .    +    .    gene_id "A";transcript_id "A";   
              <br>
              tig00000004_pilon_pilon    Pacbio    exon    231183   
              234374    .    +    .    gene_id "A";transcript_id "A";   
              <br>
              <br>
              ( I also tried with a .gff)<br>
              <br>
              my vcf is:<br>
              ##...<br>
              #CHROM  POS     ID      REF     ALT     QUAL    FILTER 
              INFO    FORMAT  A_ATTACTCG  <br>
              tig00000004_pilon_pilon 232205  .       G       A      
              9881.15 .       AC=8;AF=0.800;AN=10;DP=245;FS=<wbr>0.000;MLEAC=8;MLEAF=0.800;MQ=<wbr>60.05;QD=25.82;SOR=0.983    


              GT:AD:DP:GQ:PL  0:9,0:9:99:0,247        <br>
              <br>
              => this snp should be found in the gene "A"<br>
              <br>
              To prepare the gtf (or also .gff), I used:<br>
              grep -v "^#" test.gtf  | sort -k1,1 -k4,4n -k5,5n | bgzip
              -c > test.gtf.gz<br>
              tabix -p gtf test.gtf.gz<br>
              <br>
              my command line is:<br>
              ./vep -i test.vcf -gtf test.gtf.gz -fasta ref.fasta
              --force_overwrite<br>
              or <br>
              ./vep -i test.vcf -gff test.gff.gz -fasta ref.fasta
              --force_overwrite<br>
              <br>
              The result file is:<br>
              #Uploaded_variation     Location        Allele  Gene   
              Feature Feature_type    Consequence     cDNA_position  
              CDS_position    Protein_position        Amino_acids    
              Codons  Existing_variation      Extra<br>
              .       tig00000004_pilon_pilon:<wbr>232205  A      
              -       -       -      <b> intergenic_variant</b>     
              -       -       -       -       -       -      
              IMPACT=MODIFIER<br>
              variant_effect_output.txt (END)<br>
              <br>
              <br>
              It does not work, it retreives only integenic variants
              which is wrong as I have some SNPs in genes...<br>
              <br>
              When I try the tools on data that I used to work on using
              <a moz-do-not-send="true" href="http://gtf2vep.pl"
                target="_blank">gtf2vep.pl</a> a few years ago, it does
              not work either....<br>
              <br>
              Could you please help me and tell me if I am doing
              something wrong?<br>
              <br>
              Thank you in advance.<br>
              <br>
              Best regards,<br>
              <br>
              Sabrina
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                Sabrina <br>
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                        Responsable Plateau Bioinformatique<br>
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