hg38
Datasets
All datasets matching “hg38”gpn-msa-hg38-scores
GPN-MSA predictions for all possible SNPs in the human genome (~9 billion)
For more information check out our paper and repository.
Querying specific variants or genes
Install the latest tabix:In your current conda environment (might be slow):conda install -c bioconda -c conda-forge htslib=1.18
or in a new conda environment:conda create -n tabix -c bioconda -c conda-forge htslib=1.18
conda activate tabix
Query a specific region (e.g. BRCA1), from the remote file:… See the full description on the dataset page: https://huggingface.co/datasets/songlab/gpn-msa-hg38-scores.hg38_cactus447wayhg38-variant-consequences
VEP consequences with CRE annotations for all possible SNVs in the human genome hg38
Pre-computed VEP consequences for all possible single nucleotide variants (SNVs) in the human genome (GRCh38/hg38), with cis-regulatory element (CRE) annotations from ENCODE SCREEN.
Code: https://github.com/gonzalobenegas/hg38-variant-consequences
Dataset Details
VEP container: docker://ensemblorg/ensembl-vep:release_109.1
VEP flags: --most_severe --distance 1000
CRE source: ENCODE… See the full description on the dataset page: https://huggingface.co/datasets/songlab/hg38-variant-consequences.hg38_datahg38_microC_5kb_bin_bedhg38_DPNII_anchor_bed
