3 ms·
I thought one idea was to store only the differences from a reference genome.
by sjg007 8y ago
I thought one idea was to store only the differences from a reference genome.
- phkahler 8y agoThat is mentioned and IMHO seem like the best possible way given the 1/1000 mutation/variation rate. But they also have a quality score indicating confidence that the data is correct, and they want to compress the quality data as well.
- tonto 8y agoHere is one approach for that https://github.com/jkbonfield/crumble https://github.com/jkbonfield/crumble https://blog.dnanexus.com/2018-07-23-breaking-down-crumble/ https://blog.dnanexus.com/2018-07-23-breaking-down-crumble/
- chaosfox 8y agoyes, see CRAM format: http://www.internationalgenome.org/faq/what-are-cram-files/ http://www.internationalgenome.org/faq/what-are-cram-files/