From 332b79a27847a84a8bed186ef183f2ef49e429f6 Mon Sep 17 00:00:00 2001 From: Arang Rhie Date: Tue, 6 Dec 2022 12:56:06 -0500 Subject: [PATCH] Clarify 1KGP dataset --- README.md | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/README.md b/README.md index a7f2f0f..1f67de5 100644 --- a/README.md +++ b/README.md @@ -83,7 +83,7 @@ Analysis set for using T2T-CHM13v2.0 as a reference for mapping based research i - [HG002 5mC CpG and other methylation from ONT and HiFi](https://s3-us-west-2.amazonaws.com/human-pangenomics/index.html?prefix=T2T/CHM13/assemblies/annotation/regulation/) ### Variant calls - - [1000 Genomes Project](https://s3-us-west-2.amazonaws.com/human-pangenomics/index.html?prefix=T2T/CHM13/assemblies/variants/1000_Genomes_Project/chm13v2.0/), recalled on the 3,202 samples. + - [1000 Genomes Project](https://s3-us-west-2.amazonaws.com/human-pangenomics/index.html?prefix=T2T/CHM13/assemblies/variants/1000_Genomes_Project/chm13v2.0/), recalled on T2T-CHM13v2.0. Currently available only for chr X and Y, for the entire 3,202 samples or the unrelated 2504 samples. - [Simons Genome Diversity Project](https://s3-us-west-2.amazonaws.com/human-pangenomics/index.html?prefix=T2T/CHM13/assemblies/variants/SGDP/chm13v2.0/), recalled on T2T-CHM13v2.0. - [gnomAD v3.1.2](https://ftp.ensembl.org/pub/rapid-release/species/Homo_sapiens/GCA_009914755.4/ensembl/variation/2022_10/vcf/Homo_sapiens-GCA_009914755.4-2022_10-gnomad.vcf.gz) from [FTP](https://ftp.ensembl.org/pub/rapid-release/species/Homo_sapiens/GCA_009914755.4/ensembl/variation/2022_10/vcf/): This is a lifted over version from GRCh38, annotated with predicted molecular consequence and transcript-specific variant deleteriousness scores from PolyPhen-2 and SIFT using Ensembl Variant Effect Predictor.