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Old 03-18-2016, 04:10 PM   #1
Location: New York NY

Join Date: May 2015
Posts: 24
Default Preprocessing the exome seq bam file for copy number estimation

Hi all,

There are known limitations involved in the copy number estimation from exome sequencing (Tumor/Normal).

For instance the following paper provides some insights.
Teo et al. Statistical challenges associated with detecting copy number variations with NGS. Bioinfo. 2012

I have two questions:

1. In case of T/N paired analysis, what is the best practice for data preprocessing ?
Currently available duplicates removal approaches have limitations in discriminating true PCR duplicates and genuine biological sequences.

What is the best approach for duplicates removal?
What is the best suitable aligner for preparing the bam file for CNV estimation ?

2. In case normal reference bam is unavailable, what are the best recommended tools for copy number analysis in case of exome sequencing ?


Last edited by ty23991; 03-21-2016 at 12:07 PM.
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Old 05-12-2016, 10:09 AM   #2
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Location: Florida

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Posts: 6

Originally Posted by ty23991 View Post
Hi all,

What is the best approach for duplicates removal?
What is the best suitable aligner for preparing the bam file for CNV estimation ?

I am also interested in best practices for preprocessing bam files in preparation for CNV estimation.

In addition to these questions, should reads with low MAPQ be filtered out?

Thanks, all.
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Old 05-20-2016, 04:48 AM   #3
Location: London

Join Date: Feb 2015
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Hi there,

personally I have had success with BWA/BWA-MEM followed by Picard's MarkDuplicates. N.B. It is important to align to the FULL genome (not just canonical chromosomes).
maxsalm is offline   Reply With Quote

copy number analysis, exome sequencing, paired

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