Unconfigured Ad

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts
  • PandoraMid
    Member
    • Nov 2015
    • 18

    GATK and ExomeCNV

    Hi, I'm trying to use ExomeCNV to detect the CNV on 2 chromosomes (13 and 17 for BRCA1 and BRCA2).

    I use the manual on https://secure.genome.ucla.edu/index...CNV_User_Guide and for first part (the GATK part) I use the code on the instruction with the only variant on reference genome (I use hg19.fasta, is it correct?).

    My output is

    Code:
    INFO  13:19:22,999 HelpFormatter - -------------------------------------------------------------------------------- 
    INFO  13:19:23,000 HelpFormatter - The Genome Analysis Toolkit (GATK) v3.5-0-g36282e4, Compiled 2015/11/25 04:03:56 
    INFO  13:19:23,001 HelpFormatter - Copyright (c) 2010 The Broad Institute 
    INFO  13:19:23,001 HelpFormatter - For support and documentation go to http://www.broadinstitute.org/gatk 
    INFO  13:19:23,003 HelpFormatter - Program Args: -T DepthOfCoverage -omitBaseOutput -omitLocusTable -R ../../../reference_genome/hg19.fasta -I ../OG040.bam -L ../../../reference_genome/exome.interval_list -o output_controllo.coverage 
    INFO  13:19:23,005 HelpFormatter - Executing as martina@martina-X750JB on Linux 4.4.0-22-generic amd64; Java HotSpot(TM) 64-Bit Server VM 1.8.0_91-b14. 
    INFO  13:19:23,005 HelpFormatter - Date/Time: 2016/05/17 13:19:22 
    INFO  13:19:23,005 HelpFormatter - -------------------------------------------------------------------------------- 
    INFO  13:19:23,006 HelpFormatter - -------------------------------------------------------------------------------- 
    INFO  13:19:23,295 GenomeAnalysisEngine - Strictness is SILENT 
    INFO  13:19:23,348 GenomeAnalysisEngine - Downsampling Settings: No downsampling 
    INFO  13:19:23,352 SAMDataSource$SAMReaders - Initializing SAMRecords in serial 
    INFO  13:19:23,369 SAMDataSource$SAMReaders - Done initializing BAM readers: total time 0.02 
    INFO  13:19:23,381 IntervalUtils - Processing 18624 bp from intervals 
    INFO  13:19:23,423 GenomeAnalysisEngine - Preparing for traversal over 1 BAM files 
    INFO  13:19:23,442 GenomeAnalysisEngine - Done preparing for traversal 
    INFO  13:19:23,442 ProgressMeter - [INITIALIZATION COMPLETE; STARTING PROCESSING] 
    INFO  13:19:23,442 ProgressMeter -                 | processed |    time |    per 1M |           |   total | remaining 
    INFO  13:19:23,442 ProgressMeter -        Location |     sites | elapsed |     sites | completed | runtime |   runtime 
    INFO  13:19:23,443 DepthOfCoverage - Per-Locus Depth of Coverage output was omitted 
    INFO  13:19:42,619 DepthOfCoverage - Printing summary info 
    INFO  13:19:43,028 ProgressMeter -            done     45657.0    19.0 s       7.1 m       99.9%    19.0 s       0.0 s 
    INFO  13:19:43,028 ProgressMeter - Total runtime 19.59 secs, 0.33 min, 0.01 hours 
    INFO  13:19:43,030 MicroScheduler - 0 reads were filtered out during the traversal out of approximately 482973 total reads (0.00%) 
    INFO  13:19:43,030 MicroScheduler -   -> 0 reads (0.00% of total) failing BadCigarFilter 
    INFO  13:19:43,030 MicroScheduler -   -> 0 reads (0.00% of total) failing DuplicateReadFilter 
    INFO  13:19:43,031 MicroScheduler -   -> 0 reads (0.00% of total) failing FailsVendorQualityCheckFilter 
    INFO  13:19:43,031 MicroScheduler -   -> 0 reads (0.00% of total) failing MalformedReadFilter 
    INFO  13:19:43,031 MicroScheduler -   -> 0 reads (0.00% of total) failing NotPrimaryAlignmentFilter 
    INFO  13:19:43,031 MicroScheduler -   -> 0 reads (0.00% of total) failing UnmappedReadFilter 
    INFO  13:19:44,231 GATKRunReport - Uploaded run statistics report to AWS S3
    Is it correct?

    Then i proceed with the second part but when I try to load output.coverage.sample_interval_summary I have an error, in particular:

    "The line 1 doesn't have 15 elements".

    Where am I wrong?

    Thank you for the help

Latest Articles

Collapse

  • 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
  • GATTACAT
    Reply to Nine Things a Sample Prep Scientist Thinks About Before Sequencing
    by GATTACAT
    Love this - good data definitely starts from good input, and poor input can only give relatively poor data. I particularly like the mention of Nanodrop/absorbance based methods for quantification. It's such a toss up if you'll get an accurate reading or what amounts to a randomly generated number, and a lot of library/sequencing related issues can be traced back to poor quant.
    07-01-2026, 11:43 AM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by SEQadmin2, Yesterday, 10:26 AM
0 responses
12 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 07-09-2026, 10:04 AM
0 responses
25 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 07-08-2026, 10:08 AM
0 responses
16 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 07-07-2026, 11:05 AM
0 responses
33 views
0 reactions
Last Post SEQadmin2  
Working...