Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

primary/alt-aware for short reads(-x sr)? #72

Closed
wangyugui opened this issue Dec 2, 2017 · 3 comments
Closed

primary/alt-aware for short reads(-x sr)? #72

wangyugui opened this issue Dec 2, 2017 · 3 comments
Labels

Comments

@wangyugui
Copy link

Hi.

There is no needs of alt-aware for long reads because there is enough info to map it to primary or alt sequence in GRCh38 reference genome.

but we need it for short reads(-x sr) such as run-bwamem/bwa.kit?

Best Regards

@lh3
Copy link
Owner

lh3 commented Dec 2, 2017

Minimap2 doesn't and won't work with ALT contigs. So far ALT contigs complicate everything but deliver little benefit.

@lh3 lh3 closed this as completed Dec 2, 2017
@lh3 lh3 added the question label Dec 2, 2017
@wangyugui
Copy link
Author

The genome is complex, not because of the ALT contigs. The ALT contigs will still be the way of next GRCh39?

For SNP/small INDEL, most of job will be done by ALT-aware align such as bwa.kit or novoalign.
For SV, we will need a genome struct (alt-contig, fix-patchs) aware caller.

@lh3
Copy link
Owner

lh3 commented Dec 3, 2017

As I reflect now, I think the logic behind ALT contigs is flawed or is a temporary hack at best. You don't need ALT contigs for most analyses and so far no one understands how to properly use ALT contigs. Also, there won't be GRCh39 as I understand.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
Projects
None yet
Development

No branches or pull requests

2 participants