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Add version file for grch38_ensembl92
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leexgh committed Aug 21, 2024
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8 changes: 8 additions & 0 deletions data/grch38_ensembl92/input/annotation_version.txt
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name version type id description url
VEP grch38 mirrored vep VEP determines the effect of your variants(SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions. https://useast.ensembl.org/info/docs/tools/vep/index.html
HGNC 2023-10 mirrored hgnc The resource for approved human gene nomenclature. Genome Nexus uses HGNC gene symbols in annotation http://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/archive/monthly/tsv/
Cancer Hotspots v2 mirrored cancer_hotspots A resource for statistically significant mutations in cancer https://www.cancerhotspots.org
3D Hotspots v2 mirrored 3d_hotspots A resource for statistically significant mutations clustering in 3d protein structures in cancer https://www.3dhotspots.org/
Mutation Assessor v4 mirrored mutation_assessor Mutation Assessor predicts the functional impact of amino-acid substitutions in proteins, such as mutations discovered in cancer or missense polymorphisms. http://mutationassessor.org/r3/
My Variant Info Includes many annotation sources, see https://docs.myvariant.info/en/latest/doc/data.html external my_variant_info MyVariant.info provides simple-to-use REST web services to query/retrieve variant annotation data, aggregated from many popular data resources. https://myvariant.info
ClinVar 20230722 mirrored clinvar ClinVar aggregates information about genomic variation and its relationship to human health. https://www.ncbi.nlm.nih.gov/clinvar/
1 change: 0 additions & 1 deletion scripts/import_mongo.sh
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# import mutation assessor
echo "Downloading Mutation assessor data"
#!/bin/bash
# Data source: https://drive.google.com/file/d/1V6r65xJFF5fJ7b9JHwqkvCe8wWDrIBhd/view.
# The copy is stored in S3 bucket: ttps://genome-nexus-static-data.s3.amazonaws.com/mutationassessor4_for_genome_nexus.tsv.xz
curl https://genome-nexus-static-data.s3.amazonaws.com/mutationassessor4_for_genome_nexus.tsv.xz -o ${DIR}/../data/common_input/mutationassessor4_for_genome_nexus.tsv.xz
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