biocommons / hgvs
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
☆263Updated 3 weeks ago
Alternatives and similar repositories for hgvs:
Users that are interested in hgvs are comparing it to the libraries listed below
- tools for adding mutations to existing .bam files, used for testing mutation callers☆239Updated 5 months ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆371Updated last year
- HGVS variant name parsing and generation☆174Updated last year
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆192Updated last year
- Annotation and Ranking of Structural Variation☆248Updated 3 weeks ago
- cython + htslib == fast VCF and BCF processing☆393Updated 6 months ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆197Updated 2 weeks ago
- TransVar - multiway annotator for precision medicine☆124Updated last year
- Plot structural variant signals from many BAMs and CRAMs☆539Updated 8 months ago
- A flexible framework for rapid genome analysis and interpretation☆316Updated 2 years ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆201Updated 4 years ago
- HGVS variant nomenclature checker☆98Updated last year
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆267Updated last year
- DELLY2: Structural variant discovery by integrated paired-end and split-read analysis☆461Updated last month
- ☆264Updated last month
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆313Updated 10 months ago
- Convert a VCF into a MAF, where each variant is annotated to only one of all possible gene isoforms☆383Updated 3 months ago
- lumpy: a general probabilistic framework for structural variant discovery☆322Updated 2 years ago
- web-based analysis tool for rare disease genomics☆185Updated this week
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆123Updated 5 years ago
- VarDict☆195Updated last year
- Haplotype VCF comparison tools☆425Updated last year
- GFF and GTF file manipulation and interconversion☆298Updated 11 months ago
- structural variant calling and genotyping with existing tools, but, smoothly.☆248Updated 9 months ago
- Automatic Filtering, Trimming, Error Removing and Quality Control for fastq data☆209Updated 4 years ago
- Count bases in BAM/CRAM files☆315Updated 3 years ago
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆144Updated 2 weeks ago
- This repository contains data indexes from NIST's Genome in a Bottle project.☆245Updated last year
- Performant Pythonic GenomicRanges☆465Updated 2 weeks ago
- Documentation for the ANNOVAR software☆241Updated last week