Seqanswers Leaderboard Ad

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • plantae
    replied
    According to current VCF definition:
    The genotype of this sample. For a diploid, the GT field indicates the two alleles carried by the sample, encoded by a 0 for the REF allele, 1 for the first ALT allele, 2 for the second ALT allele, etc. When there's a single ALT allele (the by far more common case), GT will be either:

    0/0 - the sample is homozygous reference
    0/1 - the sample is heterozygous, carrying 1 copy of each of the REF and ALT alleles
    1/1 - the sample is homozygous alternate

    We would expect that 1/2 might present in the output.

    I guess samtools only consider two groups of genotype:
    0 for reference
    1 for any ALT alleles
    the likelihood for each genotype could only be traced in PL or GL field.

    Leave a comment:


  • Heisman
    replied
    I think you're misinterpreting it. What you are seeing is two alternate alleles, both different from the reference allele. Thus, there are only two bases in the genotype, not three, as the reference allele is not observed in those individuals. It is labeled 1/1 as both of the observed alleles are alternates. In the first individual with this score:

    1/1:120,57,0,120,57,120:19:0:9

    It implies that the most likely genotype is homozygous for the first alternate allele given, with the second most likely genotypes being heterozygous for wildtype or the other alternate allele (along with the first alternate allele).

    Leave a comment:


  • pengchy
    started a topic genotype in the output file of bcftools

    genotype in the output file of bcftools

    I am calling SNP with mpileup and bcftools. A problem of the genotype in the output file of bcftools is encountered. Following is one example line in vcf format.
    Code:
    scaffold30370   21103   .       A       G,T     999     .       DP=2200;VDB=0.0001;AF1=1;AC1=216;DP4=0,0,0,2190;MQ=37;FQ=-45.5  GT:PL:DP:SP:GQ  1/1:120,57,0,120,57,120:19:0:93 1/1:117,69,0,117,69,117:23:0:99 1/1:128,78,0,128,78,128:26:0:99 1/1:109,36,0,109,36,109:12:0:72 1/1:118,63,0,118,63,118:21:0:99 1/1:131,181,0,131,181,131:60:0:99 ...
    I have omitted the other individuals. I found that although there are three genotype, as indicated by column 5, the genotype in the 10+ columns only has 0 or 1. As vcf version 4.1 described, there should be genotype 2 in the GT field. I have checked all these snp sites across all 108 individuals.

    Is this a bug of bcftools?

Latest Articles

Collapse

  • seqadmin
    Pathogen Surveillance with Advanced Genomic Tools
    by seqadmin




    The COVID-19 pandemic highlighted the need for proactive pathogen surveillance systems. As ongoing threats like avian influenza and newly emerging infections continue to pose risks, researchers are working to improve how quickly and accurately pathogens can be identified and tracked. In a recent SEQanswers webinar, two experts discussed how next-generation sequencing (NGS) and machine learning are shaping efforts to monitor viral variation and trace the origins of infectious...
    03-24-2025, 11:48 AM
  • seqadmin
    New Genomics Tools and Methods Shared at AGBT 2025
    by seqadmin


    This year’s Advances in Genome Biology and Technology (AGBT) General Meeting commemorated the 25th anniversary of the event at its original venue on Marco Island, Florida. While this year’s event didn’t include high-profile musical performances, the industry announcements and cutting-edge research still drew the attention of leading scientists.

    The Headliner
    The biggest announcement was Roche stepping back into the sequencing platform market. In the years since...
    03-03-2025, 01:39 PM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by seqadmin, 03-20-2025, 05:03 AM
0 responses
41 views
0 reactions
Last Post seqadmin  
Started by seqadmin, 03-19-2025, 07:27 AM
0 responses
49 views
0 reactions
Last Post seqadmin  
Started by seqadmin, 03-18-2025, 12:50 PM
0 responses
36 views
0 reactions
Last Post seqadmin  
Started by seqadmin, 03-03-2025, 01:15 PM
0 responses
191 views
0 reactions
Last Post seqadmin  
Working...