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
    Techniques and Challenges in Conservation Genomics
    by seqadmin



    The field of conservation genomics centers on applying genomics technologies in support of conservation efforts and the preservation of biodiversity. This article features interviews with two researchers who showcase their innovative work and highlight the current state and future of conservation genomics.

    Avian Conservation
    Matthew DeSaix, a recent doctoral graduate from Kristen Ruegg’s lab at The University of Colorado, shared that most of his research...
    03-08-2024, 10:41 AM
  • seqadmin
    The Impact of AI in Genomic Medicine
    by seqadmin



    Artificial intelligence (AI) has evolved from a futuristic vision to a mainstream technology, highlighted by the introduction of tools like OpenAI's ChatGPT and Google's Gemini. In recent years, AI has become increasingly integrated into the field of genomics. This integration has enabled new scientific discoveries while simultaneously raising important ethical questions1. Interviews with two researchers at the center of this intersection provide insightful perspectives into...
    02-26-2024, 02:07 PM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by seqadmin, 03-14-2024, 06:13 AM
0 responses
32 views
0 likes
Last Post seqadmin  
Started by seqadmin, 03-08-2024, 08:03 AM
0 responses
71 views
0 likes
Last Post seqadmin  
Started by seqadmin, 03-07-2024, 08:13 AM
0 responses
79 views
0 likes
Last Post seqadmin  
Started by seqadmin, 03-06-2024, 09:51 AM
0 responses
68 views
0 likes
Last Post seqadmin  
Working...
X