Minimap2: primary/alt-aware for short reads(-x sr)?

Created on 2 Dec 2017  路  3Comments  路  Source: lh3/minimap2

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

question

Most helpful comment

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.

All 3 comments

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

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.

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.

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