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Do you have a recommendation for downstream SV calling, Do it work with Sniffles? #142

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yongfeng-zhou opened this issue Apr 2, 2018 · 8 comments

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@yongfeng-zhou
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I am interested in calling SVs based on minimap2 mapping. Do you have a recommendation for downstream SV calling? I am using Sniffles (https://github.com/fritzsedlazeck/Sniffles) to call SVs based on ngmlr mapping (https://github.com/philres/ngmlr), but it doesn't work for genome alignment. The curent bam files from minimap2 doesn't work in Sniffles. Do you will have a SV caller for minimap 2 or do you have recommendation what SV caller should I use?

Thank you!

@lh3
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lh3 commented Apr 2, 2018

See #137, #118 and fritzsedlazeck/Sniffles#51. Please update to the latest version v2.10 and run minimap2 with "--MD". Let me know if that works. Thanks.

@yongfeng-zhou
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yongfeng-zhou commented Apr 2, 2018 via email

@yongfeng-zhou
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We sent the fasta file to your email: lh3@me.com, Thank you!

@yongfeng-zhou
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My colleague compared ngmlr and minimap2 and found that the XS tag is missing in minimap2 sam files, which lead to the disconnect between minimap2 and Sniffles. Can you please check? Thank you!

@lh3
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lh3 commented Apr 3, 2018

Could you have a look at fritzsedlazeck/Sniffles#58 and try the latest sniffles?

@yongfeng-zhou
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Great! The most recent Minimap2 + the newest sniffles worked! Thank you!

@lh3
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lh3 commented Apr 3, 2018

It is difficult to ask minimap2 to output the XS tag. Unlike bwa-mem, minimap2 doesn't compute XS for most of alignments. It is possible to emulate XS, but that would be "hacky". It is good to know that the latest sniffles works. Thanks for the confirmation!

@armintoepfer
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I believe this can be closed.

@lh3 lh3 closed this as completed Feb 7, 2019
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