Unconfigured Ad

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts
  • gringer
    David Eccles (gringer)
    • May 2011
    • 845

    What program(s) made these output files?

    We've recently had a 2GS carried out by an external facility, and they did some basic variation analysis on it. I would like to interpret this analysis, but don't know what program was used to generate it (and therefore don't know what all the columns mean). The facility produced documentation for one output format (SOAPsnp), but not the others shown below:

    Code:
    ==> CNV/alts_M_C_L.anno.variant_function <==
    intergenic      TUBB8(dist=23823),ZMYND11(dist=57205)   chr10   119001  123200  0       0       Copyratio:0.51412818168789      CNVlength:4200  BinNumber:6
    intronic        DIP2C   chr10   522901  525000  0       0       Copyratio:0.0681283935965505    CNVlength:2100  BinNumber:3
    
    ==> CNV/alts_M_C_L.dat <==
    chr10   119001  123200  6       0.51412818168789
    chr10   522901  525000  3       0.0681283935965505
    
    ==> INDEL/1T.filter.vcf <==
    ##fileformat=VCFv4.1
    ##samtoolsVersion=0.1.16 (r963:234)
    
    ==> INDEL/1T.format.variant_function <==
    intergenic      NONE(dist=NONE),TUBB8(dist=19917)       chr10   72911   72911   -       AAAA    hom     55.9    15      INDEL;DP=15;AF1=1;CI95=0.5,1;DP4=0,0,4,3;MQ=37;FQ=-47.5 GT:PL:GQ 1/1:133,50,37,95,0,89,122,31,79,119:23
    upstream        TUBB8   chr10   95429   95429   -       A       het     191     38      INDEL;DP=38;AF1=0.5;CI95=0.5,0.5;DP4=6,9,14,7;MQ=48;FQ=194;PV4=0.18,1,2.5e-09,1 GT:PL:GQ        0/1:229,0,245:99
    
    ==> SV/1T.filter.gff <==
    chr:10  INS     352698  352751  intron  NM_014974       334362  355969
    chr:10  INS     490952  491074  intron  NM_014974       486937  518377
    
    ==> SV/1T.filter.sv <==
    chr10   INS     365     44      155372  155373  2
    chr10   INS     367     37      352698  352751  2
    Any ideas what program(s) were used to generate these results?

    Here's my current guess at columns:
    1. CNV/alts_M_C_L.anno.variant_function: ?possibly ANNOVAR
    2. CNV/alts_M_C_L.dat: chromosome, start position, end position, ?copy number, ?reliability
    3. INDEL/1T.filter.vcf: VCF 1.4
    4. INDEL/1T.format.variant_function: ?possibly ANNOVAR
    5. SV/1T.filter.gff: GFF format, but does't seem to provide as much information as the .sv file
    6. SV/1T.filter.sv: chromosome, variant type, ?, ?, start position, end position, ?variant count
  • lanzz
    Junior Member
    • Aug 2012
    • 3

    #2
    I am searching a tool which can convert SOAPsnp(format) to vcf.

    Does anyone know that?

    Comment

    Latest Articles

    Collapse

    • SEQadmin2
      Proteomic Platforms: How to Choose the Right Analytical Strategy to Improve Detection and Clinical Applications
      by SEQadmin2


      Proteomics platforms are evolving rapidly, with advances in mass spectrometry and affinity-based approaches expanding what researchers can detect and at what scale. As the field moves toward deeper proteome coverage and clinical applications, scientists face an increasingly complex landscape of tools. This article will explore how researchers are navigating these choices to find the right platform for their work.

      The systematic characterization of the human proteome has
      ...
      07-20-2026, 11:48 AM
    • SEQadmin2
      Advanced Sequencing Platforms Tackle Neuroscience’s Toughest Genomics Problems
      by SEQadmin2



      Genomics studies in neuroscience face a special challenge due to the brain’s complexity and scarcity of samples. Mapping changes in cell type and state using conventional next-generation sequencing methods remains challenging. Advances in technologies like single-cell sequencing, spatial transcriptomics, and long-read sequencing have opened the door to deeper studies of the brain and diseases like Alzheimer’s, amyotrophic lateral sclerosis (ALS), and schizophrenia.
      ...
      07-09-2026, 11:10 AM
    • SEQadmin2
      Cancer Drug Resistance: The Lingering Barrier to Rising Survival
      by SEQadmin2



      Cancer survival rates have significantly increased in the last few decades in the United States, reaching a combined 70% 5-year survival rate by 2021. Behind this number, there are years of research to find new therapies, drug targets, and early detection methods. But there is one core challenge that keeps slowing down these advances, and it’s about drug resistance.

      There is no single reason why many patients don’t respond to treatment as expected. Cancer is...
      07-08-2026, 05:17 AM

    ad_right_rmr

    Collapse

    News

    Collapse

    Topics Statistics Last Post
    Started by SEQadmin2, Yesterday, 12:17 PM
    0 responses
    13 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 07-23-2026, 11:41 AM
    0 responses
    14 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 07-20-2026, 11:10 AM
    0 responses
    23 views
    0 reactions
    Last Post SEQadmin2  
    Started by SEQadmin2, 07-13-2026, 10:26 AM
    0 responses
    37 views
    0 reactions
    Last Post SEQadmin2  
    Working...