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Input: dbVar GVF (Genome Variation Format)
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GRCh37 ftp://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_assembly/GRCh37/gvf/GRCh37.variant_call.gvf.gz ftp://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_assembly/GRCh37/gvf/GRCh37.variant_region.gvf.gz
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GRCh38 ftp://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_assembly/GRCh38/gvf/GRCh38.variant_call.gvf.gz ftp://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_assembly/GRCh38/gvf/GRCh38.variant_region.gvf.gz
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Output: Turtle formatted RDF
$ docker build --tag dbvar-rdf .
$ zcat GRCh38.variant_call.gvf.gz | docker run --rm -i dbvar-rdf convert variant_call 2> dbVar.variant_call.GRCh38.log | gzip -c > dbVar.variant_call.GRCh38.ttl.gz
$ zcat GRCh38.variant_region.gvf.gz | docker run --rm -i dbvar-rdf convert variant_region 2> dbVar.variant_region.GRCh38.log | gzip -c > dbVar.variant_region.GRCh38.ttl.gz
require 'dbvar/rdf'
DbVar::RDF::Writer::Turtle.new do |writer| # to standard output
DbVar::RDF::Reader::GVF.new.each do |data| # from standard input
writer << data.to_rdf(DbVar::RDF::Models::VariantCall) # or DbVar::RDF::Models::VariantRegion
end
end
Bug reports and pull requests are welcome on GitHub at https://github.com/med2rdf/dbvar-rdf. This project is intended to be a safe, welcoming space for collaboration, and contributors are expected to adhere to the Contributor Covenant code of conduct.
The gem is available as open source under the terms of the MIT License.
Everyone interacting in the DbVar::RDF project’s codebases, issue trackers, chat rooms and mailing lists is expected to follow the code of conduct.