Seqanswers Leaderboard Ad

Collapse

Announcement

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

  • Varscan-output interpretation

    Hi all,

    I am new to NGS analysis. I have used bowtie (ver:bowtie-0.12.7) for aligning reference sequence (fastq format) with two paired end files of illumina reads (fastq format).
    I used SAM tools (ver:samtools-0.1.18) and made a 'mpileup' file.
    Then I have used Varscan (ver:.v2.2.11) for variant calling. I used "mpileup2snp" command (with default parameters) to determine SNV and for heterozygosity & homozygosity.
    My basic idea is to call heterozygous SNV with conservative filters, such as coverage, variant allele
    frequency, strand representation and p-value to isolate high-confidence calls.

    Using the command "mpileup2snp", I got the output as follows. Given 1 column as an example
    Chrom - gi|371443199|gb|JH556661.1|
    Position - 2594265
    Ref- G
    Var- C
    Cons:Cov:Reads1:Reads2:Freq:P-value- S:21:14:7:33.33%:4.3101E-3
    StrandFilter:R1+:R1-:R2+:R2-val- Fail:12:2:0:7:3.096E-4
    SamplesRef- 0
    SamplesHet- 1
    SamplesHom- 0
    SamplesNC - 0
    Cons:Cov:Reads1:Reads2:Freq:P-value- S:21:14:7:33.33%:4.3101E-3

    1.Please let me know whether I am using the correct command to call heterzygous SNV with high-confidence calls(whether I have to use mpileup2snp or mpileup2indel or mpileup2cns?)

    2.Can I parse these variant call by chromosome?. How Can I do that?

    3.Is it possible to view regions of high and low heterozygosity in the genome?. If possible, how can I do that?

    Thanks in advance

Latest Articles

Collapse

  • seqadmin
    Latest Developments in Precision Medicine
    by seqadmin



    Technological advances have led to drastic improvements in the field of precision medicine, enabling more personalized approaches to treatment. This article explores four leading groups that are overcoming many of the challenges of genomic profiling and precision medicine through their innovative platforms and technologies.

    Somatic Genomics
    “We have such a tremendous amount of genetic diversity that exists within each of us, and not just between us as individuals,”...
    05-24-2024, 01:16 PM
  • seqadmin
    Recent Advances in Sequencing Analysis Tools
    by seqadmin


    The sequencing world is rapidly changing due to declining costs, enhanced accuracies, and the advent of newer, cutting-edge instruments. Equally important to these developments are improvements in sequencing analysis, a process that converts vast amounts of raw data into a comprehensible and meaningful form. This complex task requires expertise and the right analysis tools. In this article, we highlight the progress and innovation in sequencing analysis by reviewing several of the...
    05-06-2024, 07:48 AM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by seqadmin, 05-24-2024, 07:15 AM
0 responses
195 views
0 likes
Last Post seqadmin  
Started by seqadmin, 05-23-2024, 10:28 AM
0 responses
217 views
0 likes
Last Post seqadmin  
Started by seqadmin, 05-23-2024, 07:35 AM
0 responses
219 views
0 likes
Last Post seqadmin  
Started by seqadmin, 05-22-2024, 02:06 PM
0 responses
12 views
0 likes
Last Post seqadmin  
Working...
X