Unconfigured Ad

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts
  • peterlchang
    Junior Member
    • Mar 2010
    • 5

    SNPs at Interval Boundaries in GATK HaplotypeCaller

    I'm using HaplotypeCaller with the -L option, where I explicitly state the interval. I am trying to break my task into pieces and assign it to different jobs for it to complete faster. In one run, I am running it, from say,

    Chr1:1-1000000

    and another run, I am running it twice, from

    Chr1:1-500000 on one jobs and
    Chr1:500001-1000000 on another

    essentially splitting the interval into 2 different jobs. What I am seeing in this second run is that there are SNPs identified +/- 100 bases from 500000 that are not found in the first run.

    My guess is that asking HC to focus only on a region (ie -L 1-500000) does not allow the local aligner to reassemble properly the reads, and hence results in spurious reads and SNPs. I was hoping that by specifying -L, it does the local aligner in a larger region and just report the SNPs in the -L region.

    Has anybody heard of this or have a way around?

Latest Articles

Collapse

  • mylaser
    Reply to Advanced Sequencing Platforms Tackle Neuroscience’s Toughest Genomics Problems
    by mylaser
    Kheloyar – Everything You Need to Know About Kheloyaar Login and Kheoyar Id
    If you are looking for an online gaming platform that offers a user-friendly experience, Kheloyar has become a name that many users search for. Whether you're interested in creating a new account, accessing your dashboard through Kheloyaar Login, or learning how to obtain a Kheoyar Id, understanding the platform's features and account process is essential.
    This guide explains everything you need to know about...
    Yesterday, 01:13 AM
  • SEQadmin2
    Advanced Sequencing Platforms Tackle Neuroscience’s Toughest Genomics Problems
    by SEQadmin2



    Genomics studies in neuroscience face a special challenge due to the brain’s complexity and scarcity of samples. Mapping changes in cell type and state using conventional next-generation sequencing methods remains challenging. Advances in technologies like single-cell sequencing, spatial transcriptomics, and long-read sequencing have opened the door to deeper studies of the brain and diseases like Alzheimer’s, amyotrophic lateral sclerosis (ALS), and schizophrenia.
    ...
    07-09-2026, 11:10 AM
  • SEQadmin2
    Cancer Drug Resistance: The Lingering Barrier to Rising Survival
    by SEQadmin2



    Cancer survival rates have significantly increased in the last few decades in the United States, reaching a combined 70% 5-year survival rate by 2021. Behind this number, there are years of research to find new therapies, drug targets, and early detection methods. But there is one core challenge that keeps slowing down these advances, and it’s about drug resistance.

    There is no single reason why many patients don’t respond to treatment as expected. Cancer is...
    07-08-2026, 05:17 AM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by SEQadmin2, 07-09-2026, 10:04 AM
0 responses
21 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 07-08-2026, 10:08 AM
0 responses
13 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 07-07-2026, 11:05 AM
0 responses
31 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 07-02-2026, 11:08 AM
0 responses
31 views
0 reactions
Last Post SEQadmin2  
Working...