speedseq icon indicating copy to clipboard operation
speedseq copied to clipboard

about using GRCH38

Open liminghao663 opened this issue 9 years ago • 4 comments

In your instruction:

"For human genome alignment using the GRCh37 build, we recommend using the annotations/ceph18.b37.include.2014-01-15.bed windows to parallelize variant calling (speedseq var and speedseq somatic). "

But I want to using GRCH38 ref genome to do mapping, what should I do? which bed windows should I choice?

Thanks for your help

liminghao663 avatar Sep 29 '16 09:09 liminghao663

Any update on this? We are interested in using GRCh38 as well, as I imagine are others. If there is no annotation file provided, are there instructions on how the community can create one? That would be much appreciated.

Thanks,

Jason

jgbaum avatar Feb 16 '17 18:02 jgbaum

To add... I've attempted to genotype SVs with speedseq sv -gusing hg38 aligned genomes. I used an exclusion file that contained gaps, centromeres, and segmental duplications for hg38 and SVTyper fails to genotype SVs. I've also lifted-over the hg19 exclusion file to hg38 and SVTyper still fails to genotype SVs.

dantaki avatar Oct 02 '17 16:10 dantaki

any update on this? or as @jgbaum mentioned, how to create such a file for hg38? thanks!

crazyhottommy avatar Nov 09 '19 20:11 crazyhottommy

FYI, there is one can download from GATK https://console.cloud.google.com/storage/browser/genomics-public-data/resources/broad/hg38/v0/

crazyhottommy avatar Nov 09 '19 21:11 crazyhottommy