The-Sequence-Ontology / SO-OntologiesLinks
Collect of SO Ontologies
☆100Updated 7 months ago
Alternatives and similar repositories for SO-Ontologies
Users that are interested in SO-Ontologies are comparing it to the libraries listed below
Sorting:
- Extensible specification for representing and uniquely identifying biological sequence variation☆88Updated 2 months ago
- GA4GH Variation Representation Python Implementation☆57Updated this week
- Scalable gVCF merging and joint variant calling for population sequencing projects☆161Updated last year
- An information model for representing variant annotations.☆20Updated this week
- Annotation of VCF variants with functional impact and from databases (executable+library)☆59Updated last week
- Documentation and description of AWS iGenomes S3 resource.☆114Updated 6 months ago
- This repository contains information about latest release from Genome in a Bottle project☆74Updated 5 years ago
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆65Updated 2 months ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆162Updated 10 months ago
- Sequana: a set of Snakemake NGS pipelines☆146Updated 3 months ago
- Tools for processing and analyzing structural variants.☆152Updated 3 years ago
- A tool to genotype CYP2D6 with WGS data☆52Updated last year
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆79Updated 2 months ago
- A structural variation pipeline for short-read sequencing☆189Updated this week
- A suite of tools for detecting expansions of short tandem repeats☆82Updated last year
- Software program for checking sample matching for NGS data☆132Updated last year
- Short-read and long-read sequencing tools for diagnostics☆161Updated last week
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated last week
- A collection of reusable WDL tasks. Category:Other☆87Updated last week
- VarDict Java port☆134Updated last year
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated last year
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆202Updated 4 years ago
- A Python package for pharmacogenomics (PGx) research☆74Updated 4 months ago
- conda recipes for genomic data☆85Updated 3 years ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆85Updated 4 months ago
- IGV Web App☆123Updated last week
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆97Updated last year
- A modular annotation tool for genomic variants☆124Updated last week
- a Medical Genetics Sequence Analysis Pipeline☆83Updated this week
- Browser for ExAC consortium data☆106Updated 3 years ago