Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • SMusker
    Junior Member
    • Feb 2016
    • 1

    #1

    Question: NGS SNP data - trouble recomputing INFO values in VCF

    Hi all,

    I have a VCF file containing 190 samples from two species, with >250 000 SNPs called by Cornell's Genomics Institute. I have been able to create subsets for each of the species and filter based on FORMAT values using vcftools and vcflib. However, when I try to recompute the INFO fields, after filtering and subsetting, using vcflib's vcffixup, my NS (no. of samples) field is inaccurate, remaining constant at the total number of samples in the file (i.e. 95), even if there are samples with missing data for the SNP.

    I've noticed that the records without data are represented by a './.' in the original files, but after running vcffixup they become './.:.:.:.:.'.

    Is there an issue with the software? Are there other tools that I can use for this task?

    I am trying to avoid using GATK as, after converting my fastq file to a 37G fasta, creating a .dict file from it using the commands here (http://gatkforums.broadinstitute.org...e-as-reference) ran for hours before I gave up and terminated the process.

    Thanks!

Latest Articles

Collapse

  • SEQadmin2
    Multiomic Liquid Biopsy: What DNA/RNA Panels Reveal That DNA Alone Can’t
    by SEQadmin2



    Tumors contain complex mixtures of cell populations that evolve in response to treatment and host-specific factors. Tissue biopsies provide only static snapshots of a tumor’s state. But what if we could follow that evolution over time using a minimally invasive technique?

    Liquid biopsies can detect tumor-derived material circulating in the bloodstream, providing a way to study treatment response, detect emerging resistance, and discover new biomarkers. Circulating
    ...
    10-14-2026, 09:55 AM
  • SEQadmin2
    New Genomics Technologies Take Aim at Long-Standing Limits
    by SEQadmin2


    Researchers using sequencing and genomics tools often have to make trade-offs. They can choose between speed or scale, short reads or long-range information, or targeted panels or a view of the whole transcriptome. New technologies that have been released this year are built to address those tough choices.

    We asked six companies the same four questions to learn about their latest products. The new technologies bring a lot to the table, including rethinking sequencing
    ...
    09-28-2026, 10:25 AM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by SEQadmin2, 10-15-2026, 10:52 AM
0 responses
28 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-14-2026, 05:39 AM
0 responses
36 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-13-2026, 09:56 AM
0 responses
31 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-09-2026, 11:14 AM
0 responses
29 views
0 reactions
Last Post SEQadmin2  
Working...