Seqanswers Leaderboard Ad

Collapse

Announcement

Collapse
No announcement yet.
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • Calculating Genotype Likelihood from NGS

    Hi,
    I have human whole genome sequencing data (at 30x depth) which is already called using CASAVA. I plan to use these genotype data (>3million SNPs per individual) for quantitative trait association study. regarding the fraction of the polymorphisms which have a low coverage (e.g. < 4) should I filter these out, or it would be better to feed these low coverage data to an imputation pipeline?

  • #2
    Check the mapping quality of the reads. If the mapping quality too low, you can filter out.

    Comment


    • #3
      Originally posted by TiborNagy View Post
      Check the mapping quality of the reads. If the mapping quality too low, you can filter out.
      Is that the QUAL field in VCF? so you recommend filtering only based on QUAL and not considering GQ/read depth? i.e. what should be done if quality is good, but depth is moderate/low?

      Comment


      • #4
        Useful thread about filtering VCF files over in GATK forum: http://gatkforums.broadinstitute.org...ring-vcf-files

        Comment


        • #5
          Originally posted by GenoMax View Post
          Useful thread about filtering VCF files over in GATK forum: http://gatkforums.broadinstitute.org...ring-vcf-files
          Thanks for your response. I have gone through the suggestions provided on this link. My specific problem is with variants with good QUAL (hard filter >20~30) but low sequencing depth, which translates to lower certainty about the exact genotype. i.e. there is already some evidence to rule-out REF/REF genotype, but not enough reads to specify REF/ALT vs ALT/ALT.

          Is there any recommendation/paper regarding NGS genotyping and association studies? Overall, Does it make sense to filter based on both QUAL and Depth/GQ parameters?

          Comment

          Latest Articles

          Collapse

          • seqadmin
            Advancing Precision Medicine for Rare Diseases in Children
            by seqadmin




            Many organizations study rare diseases, but few have a mission as impactful as Rady Children’s Institute for Genomic Medicine (RCIGM). “We are all about changing outcomes for children,” explained Dr. Stephen Kingsmore, President and CEO of the group. The institute’s initial goal was to provide rapid diagnoses for critically ill children and shorten their diagnostic odyssey, a term used to describe the long and arduous process it takes patients to obtain an accurate...
            12-16-2024, 07:57 AM
          • seqadmin
            Recent Advances in Sequencing Technologies
            by seqadmin



            Innovations in next-generation sequencing technologies and techniques are driving more precise and comprehensive exploration of complex biological systems. Current advancements include improved accessibility for long-read sequencing and significant progress in single-cell and 3D genomics. This article explores some of the most impactful developments in the field over the past year.

            Long-Read Sequencing
            Long-read sequencing has seen remarkable advancements,...
            12-02-2024, 01:49 PM

          ad_right_rmr

          Collapse

          News

          Collapse

          Topics Statistics Last Post
          Started by seqadmin, 12-17-2024, 10:28 AM
          0 responses
          26 views
          0 likes
          Last Post seqadmin  
          Started by seqadmin, 12-13-2024, 08:24 AM
          0 responses
          43 views
          0 likes
          Last Post seqadmin  
          Started by seqadmin, 12-12-2024, 07:41 AM
          0 responses
          29 views
          0 likes
          Last Post seqadmin  
          Started by seqadmin, 12-11-2024, 07:45 AM
          0 responses
          42 views
          0 likes
          Last Post seqadmin  
          Working...
          X