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Large deletions in exome sequencing data

Hi everyone, Is there a method/pipeline or tools to get a hint about heterozygous large deletions (> 1kb) in exome sequencing and targeted panel seq data ? Is there a way apart from manual checking in IGV ?

exome seq large deletions targeted panel
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updated by geocarvalho geocarvalho • written by Ankit Ankit

Googling exome sequencing structural variation will give you plenty of hits.

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written by WouterDeCoster WouterDeCoster

2 answers

There are more tools available, I tried a few and had a good experience with R (CRAN) package ExomeDepth.

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written by Benn Benn

I have been collecting some papers about CNV analysis (link). There is a topic about Whole Exome Sequencing (WES). Nowadays, I'm using Exomedepth+cnvScan. I'm also trying to add more callers to my pipeline.

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written by geocarvalho geocarvalho

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