Unconfigured Ad

Collapse
X
 
  • Time
  • Show
Clear All
new posts
  • Flo1000
    Member
    • Sep 2014
    • 12

    #1

    Annotate vcf with 1000G allele frequency without Annovar

    Hi,
    in our pipeline, I'd like to annotate the resulting vcf files with 1000 Genome phase 1 allele frequencies. I cannot use Annovar, because part of our sequencing results are used for diagnostic purposes, which means commercial use.
    My idea is to download all vcf files from 1000 Genomes, concatenate them and then use SnpSift (something like: ./SnpSift annotate combined_1000G.vcf input.vcf > output.vcf -noId -info 1000Gp1_AF)
    I wonder if someone has a better solution, e. g. not requiring such an enormous dataset download.
    The dbNSFP option of SnpSift is not sufficient, because I also need the frequencies of the synonymous SNVs.

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, 10-22-2026, 11:13 AM
0 responses
49 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-22-2026, 10:48 AM
0 responses
37 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-15-2026, 10:52 AM
0 responses
46 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 10-14-2026, 05:39 AM
0 responses
46 views
0 reactions
Last Post SEQadmin2  
Working...