All Projects → BioInterchange → Ontologies

BioInterchange / Ontologies

Licence: other
Home of the Genomic Feature and Variation Ontology (GFVO)

Programming Languages

ruby
36898 projects - #4 most used programming language
shell
77523 projects

Projects that are alternatives of or similar to Ontologies

Svtyper
Bayesian genotyper for structural variants
Stars: ✭ 79 (+393.75%)
Mutual labels:  genomics, vcf
Hap.py
Haplotype VCF comparison tools
Stars: ✭ 249 (+1456.25%)
Mutual labels:  genomics, vcf
Genomics
A collection of scripts and notes related to genomics and bioinformatics
Stars: ✭ 101 (+531.25%)
Mutual labels:  genomics, vcf
Hail
Scalable genomic data analysis.
Stars: ✭ 706 (+4312.5%)
Mutual labels:  genomics, vcf
FALDO
Feature Annotation Location Description Ontology
Stars: ✭ 28 (+75%)
Mutual labels:  genomics, ontology
Tiledb Vcf
Efficient variant-call data storage and retrieval library using the TileDB storage library.
Stars: ✭ 26 (+62.5%)
Mutual labels:  genomics, vcf
Cyvcf2
cython + htslib == fast VCF and BCF processing
Stars: ✭ 243 (+1418.75%)
Mutual labels:  genomics, vcf
Htsjdk
A Java API for high-throughput sequencing data (HTS) formats.
Stars: ✭ 220 (+1275%)
Mutual labels:  genomics, vcf
spark-vcf
Spark VCF data source implementation for Dataframes
Stars: ✭ 15 (-6.25%)
Mutual labels:  genomics, vcf
CuteVCF
simple viewer for variant call format using htslib
Stars: ✭ 30 (+87.5%)
Mutual labels:  genomics, vcf
Pygeno
Personalized Genomics and Proteomics. Main diet: Ensembl, side dishes: SNPs
Stars: ✭ 261 (+1531.25%)
Mutual labels:  genomics, vcf
fuc
Frequently used commands in bioinformatics
Stars: ✭ 23 (+43.75%)
Mutual labels:  vcf, gtf
Vcfanno
annotate a VCF with other VCFs/BEDs/tabixed files
Stars: ✭ 259 (+1518.75%)
Mutual labels:  genomics, vcf
Genozip
Compressor for genomic files (FASTQ, SAM/BAM, VCF, FASTA, GVF, 23andMe...), up to 5x better than gzip and faster too
Stars: ✭ 53 (+231.25%)
Mutual labels:  genomics, vcf
cljam
A DNA Sequence Alignment/Map (SAM) library for Clojure
Stars: ✭ 85 (+431.25%)
Mutual labels:  genomics, vcf
indelope
find large indels (in the blind spot between GATK/freebayes and SV callers)
Stars: ✭ 38 (+137.5%)
Mutual labels:  genomics, vcf
cell-ontology
An ontology of cell types
Stars: ✭ 75 (+368.75%)
Mutual labels:  genomics, ontology
SVCollector
Method to optimally select samples for validation and resequencing
Stars: ✭ 20 (+25%)
Mutual labels:  vcf
plasmidtron
Assembling the cause of phenotypes and genotypes from NGS data
Stars: ✭ 27 (+68.75%)
Mutual labels:  genomics
dropClust
Version 2.1.0 released
Stars: ✭ 19 (+18.75%)
Mutual labels:  genomics

BioInterchange Ontologies

Bioinformatics related ontologies. Especially for generating RDF content using BioInterchange.

Genomic Feature and Variation Ontology (GFVO)

An ontology for describing genomic features and variants; in particular the contents of GFF3, GTF, GVF and VCF files.

Build Instructions

Build instructions are intended for collaborators and enthusiasts who would like contributing to the BioInterchange ontologies. The ontologies can be edited using Protege, but a few post-processing steps are necessary to remove additional information that Protege inserts on its own.

Post-Protege-Cleanup

Saving an ontology with Protege will introduce explicit class definitions and individuals for external URIs. These have to be removed, so that only BioInterchange URIs are described by the ontologies. A script has been provided that takes care of this, and additionally, increments the patch level version number of the ontologies.

For example, the following commands can be used to create a new cleaned version of the GFVO ontology:

<gfvo.xml scripts/cleanse.rb > gfvo.tmp
mv gfvo.tmp gfvo.xml

Generating GFVO for BioPortal

Due to technical limitations of BioPortal, GFVO in BioPortal cannot import other ontologies or contain SIO class- or property-equivalences. If ontologies are imported and equivalences kept, then BioPortal reports from summary statistics and the class browser shows thousands of classes that are not part of GFVO itself.

Removal of OWL imports and class- and property-equivalences:

grep -v '<owl:imports ' gfvo.xml | grep -v '<owl:equivalentProperty ' | grep -v '<owl:equivalentClass ' > gfvo_bioportal.xml

Generating Statistics

Summary statistics about classes and properties can be output in human-readable and HTML via:

./scripts/stats.rb < gfvo.xml

Generating new GO Abbreviation Collection Link-Outs

A regular expression of valid URIs as defined in the Gene Ontology Abbreviation Collection can be automatically generated using the following command:

./scripts/go_xref2xsd_pattern.rb

On Mac OS X, the generated regular expression can be copied into the clipboard for subsequent pasting using the pbcopy command:

./scripts/go_xref2xsd_pattern.rb | pbcopy

Deprecated Ontologies

The following ontologies were prototypes that eventually merged into the Genomic Feature and Variation Ontology (GFVO).

Generic Feature Format Version 3 Ontology (GFF3O)

An ontology for describing GFF3 file contents.

Genome Variation Format Version 1 Ontology (GVF1O)

An ontology for describing GVF file contents.

Note that the project description data, including the texts, logos, images, and/or trademarks, for each open source project belongs to its rightful owner. If you wish to add or remove any projects, please contact us at [email protected].