From e1e49554ca704768b27073b043dbf73b429c4e0d Mon Sep 17 00:00:00 2001 From: Brent Pedersen Date: Mon, 4 Nov 2019 11:27:51 -0700 Subject: [PATCH] link to hg38 gnomad wgs zip --- README.md | 3 ++- 1 file changed, 2 insertions(+), 1 deletion(-) diff --git a/README.md b/README.md index 15bcacf..f177a3f 100644 --- a/README.md +++ b/README.md @@ -282,7 +282,8 @@ instead. Users can create their own gnotation files with `slivar make-gnotate`, but we provide: + gnomad for hg37 with AF popmax, numhomalts (total and controls only) [here](https://s3.amazonaws.com/slivar/gnomad.hg37.zip) -+ gnomad for hg38 with AF popmax, numhomalts (updated in release v0.1.2) [here](https://s3.amazonaws.com/slivar/gnomad.hg38.v2.zip) ++ **lifted** gnomad exomes+genomes for hg38 with AF popmax, numhomalts (updated in release v0.1.2) [here](https://s3.amazonaws.com/slivar/gnomad.hg38.v2.zip) ++ gnomad genomes (71,702 samples) for hg38 with AF popmax, numhomalts (updated in release v0.1.7) [here](https://slivar.s3.amazonaws.com/gnomad.hg38.genomes.v3.zip) + spliceai scores (maximum value of the 4 scores in spliceai) [here](https://s3.amazonaws.com/slivar/spliceai.hg37.zip) + [topmed allele frequencies (via dbsnp)](https://slivar.s3.amazonaws.com/topmed.hg38.dbsnp.151.zip) these can be used with `INFO.topmed_af`. Useful when analyzing data in hg38 because [some variants in hg38 are not visible in GRCh37](https://twitter.com/brent_p/status/1139540523364917248)