arq5x / lumpy-sv

lumpy: a general probabilistic framework for structural variant discovery
MIT License
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Lumpy inconsistently detecting SVs #240

Open CBorreda opened 6 years ago

CBorreda commented 6 years ago

Hi Ryan!

I've been using Lumpy to detect SVs in plant genomes for a while. We were using them in 2-3 samples batches and it worked perfectly. Now I wanted to check SVs within a family so we run it for several samples on the same run. However, it failed to find some real SVs (by real I mean clearly visible when looking at IGV + PCR-confirmed) of a considerable size (few kb deletions and translocations). This problem arises only when using 5-7 samples; using 2 those SVs are detected. I thought that, by adding samples, the VCF would just get wider and longer, but I didn't expect it to actually substract variations. Is there something I'm missing here?

Thank you

Carles

ryanlayer commented 6 years ago

This is very strange. My expectation and experience is that more samples gives wider/longer VCFs. Can you send me the two commands? Is it possible that the 5-7 errors out due to memory issues?

On Thu, Apr 12, 2018 at 5:51 AM, CBorreda notifications@github.com wrote:

Hi Ryan!

I've been using Lumpy to detect SVs in plant genomes for a while. We were using them in 2-3 batches and it worked perfectly. Now I wanted to check SVs in a family so we run it for several samples on the same run. However, it failed to find some real SVs (by real I mean clearly visible when looking at IGV + PCR-confirmed) of a considerable size (few kb deletions and translocations). This problem arises only when using 5-7 samples; using 2 those SVs are detected. I thought that, by adding samples, the VCF would just get wider and longer, but I didn't expect it to actually substract samples. Is there something I'm missing here?

Thank you

Carles

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