Is Delly calling SV sample-by-sample?

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Jerry Xu

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Apr 14, 2016, 8:06:35 PM4/14/16
to delly-users
I usually ran 10 low-coverage whole-genome sequences together using Delly with parallel computing.
/delly -g g1k37.fa -t DEL sample1.bam sample2.bam sample3.bam...

And I thought Delly retrieves read-pair/split-read information and call SV on a single sample, then merge per-sample SV callings into multi-sample vcf file. Is that correct?

But today I tried to run those same low-coverage whole-genome sequences one by one,
delly -g g1k37.fa -t DEL sample1.bam
delly -g g1k37.fa -t DEL sample2.bam
delly -g g1k37.fa -t DEL sample3.bam

and found the deletion calls (~2000) are quite fewer than running in parallel (~7000) as before. This makes me feel suspicious maybe Delly works by combining different samples to increase sensitivity when multiple samples are submitted to run together?

Any comments?

Many thanks!

Tobias Rausch

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Apr 15, 2016, 10:16:29 AM4/15/16
to Jerry Xu, delly-users
Delly pools the SV evidence from all input samples so for low-coverage samples it's indeed better to run multiple samples together to increase sensitivity.

-Tobias

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John Farrell

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May 27, 2016, 4:12:37 PM5/27/16
to delly-users, gerryb...@gmail.com
When the bam files have 30x coverage, is running on multiple samples also useful?  Is there a maximum number of samples that would be recommended to be run together?

John

Tobias Rausch

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May 30, 2016, 11:11:34 AM5/30/16
to John Farrell, delly-users, Jerry Xu
Hi John,

At high coverage (>=30x) it's fine to run Delly sample-by-sample for germline SVs and in a paired tumor-normal fashion for somatic SVs. Just make sure that you afterwards merge, re-genotype and filter the SVs as described in the README file.

Best, Tobias

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