Seqanswers Leaderboard Ad

Collapse

Announcement

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

  • Hetrozygous / Homozygous variant ratio humans

    Hi everyone,

    Does anyone have an idea what the het/hom variant ratio is for humans?

    Is 0.7-1 reasonable depending on population for WGS

    For example, here is what I got with my GATK pipeline:

    Sample 1 (E European)

    1- After BQSR- 1.03
    2- After HaplotypeCaller- 0.73
    3- After VQSR- 0.72


    Sample 2 (Siberian):

    1- After BQSR- 1.32
    2- After HaplotypeCaller- 1.0
    3- After VQSR - 0.99


    Just trying to gauge whether my filtering is too aggressive and that I am filtering out too many true positive SNPs.

    With regards to novel SNPs:

    Sample 1:
    1- After BQSR- 10%
    2- After VQSR- 1%

    Sample 2:

    Same as sample 1

Latest Articles

Collapse

  • seqadmin
    Genetic Variation in Immunogenetics and Antibody Diversity
    by seqadmin



    The field of immunogenetics explores how genetic variations influence immune responses and susceptibility to disease. In a recent SEQanswers webinar, Oscar Rodriguez, Ph.D., Postdoctoral Researcher at the University of Louisville, and Ruben Martínez Barricarte, Ph.D., Assistant Professor of Medicine at Vanderbilt University, shared recent advancements in immunogenetics. This article discusses their research on genetic variation in antibody loci, antibody production processes,...
    11-06-2024, 07:24 PM
  • seqadmin
    Choosing Between NGS and qPCR
    by seqadmin



    Next-generation sequencing (NGS) and quantitative polymerase chain reaction (qPCR) are essential techniques for investigating the genome, transcriptome, and epigenome. In many cases, choosing the appropriate technique is straightforward, but in others, it can be more challenging to determine the most effective option. A simple distinction is that smaller, more focused projects are typically better suited for qPCR, while larger, more complex datasets benefit from NGS. However,...
    10-18-2024, 07:11 AM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by seqadmin, Today, 11:09 AM
0 responses
22 views
0 likes
Last Post seqadmin  
Started by seqadmin, Today, 06:13 AM
0 responses
20 views
0 likes
Last Post seqadmin  
Started by seqadmin, 11-01-2024, 06:09 AM
0 responses
30 views
0 likes
Last Post seqadmin  
Started by seqadmin, 10-30-2024, 05:31 AM
0 responses
21 views
0 likes
Last Post seqadmin  
Working...
X