Unconfigured Ad

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts
  • Ruhua
    Junior Member
    • Dec 2012
    • 2

    construct DNA sequence based on variation and human reference

    The 1000 genome project provides us information about "variation" of thousands people's DNA sequence against the human reference DNA sequence. The variation is stored in VCF file
    format. Basically, for each person in that project, we can get his/her DNA variation information from the VCF file, for example, the type of variation (e.g Insertion/deletion and SNP ) and the position of the variation relative to the reference. The reference is in FASTA format. By combining variation information of one person from the VCF file and the human reference in FASTA file, I want to construct the DNA sequence for that person.

    My question is: Does it already exist some tools can perform the task pretty well,or I have to write the scripts by myself?
  • ak352
    Junior Member
    • Sep 2013
    • 7

    #2
    Try GATK FastaAlternateReferenceMaker.
    Please answer my unsolved question - http://seqanswers.com/forums/showthread.php?t=33740

    Comment

    • Ruhua
      Junior Member
      • Dec 2012
      • 2

      #3
      Hi ak352,

      Thanks for your prompt response! I will take a try.

      Comment

      Latest Articles

      Collapse

      • 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.
        ...
        Yesterday, 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
      • GATTACAT
        Reply to Nine Things a Sample Prep Scientist Thinks About Before Sequencing
        by GATTACAT
        Love this - good data definitely starts from good input, and poor input can only give relatively poor data. I particularly like the mention of Nanodrop/absorbance based methods for quantification. It's such a toss up if you'll get an accurate reading or what amounts to a randomly generated number, and a lot of library/sequencing related issues can be traced back to poor quant.
        07-01-2026, 11:43 AM

      ad_right_rmr

      Collapse

      News

      Collapse

      Topics Statistics Last Post
      Started by SEQadmin2, Yesterday, 10:04 AM
      0 responses
      11 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 07-08-2026, 10:08 AM
      0 responses
      9 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 07-07-2026, 11:05 AM
      0 responses
      17 views
      0 reactions
      Last Post SEQadmin2  
      Started by SEQadmin2, 07-02-2026, 11:08 AM
      0 responses
      31 views
      0 reactions
      Last Post SEQadmin2  
      Working...