biocommons / hgvs
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
☆268Updated last month
Alternatives and similar repositories for hgvs
Users that are interested in hgvs are comparing it to the libraries listed below
Sorting:
- HGVS variant nomenclature checker☆98Updated 2 years ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆194Updated last year
- HGVS variant name parsing and generation☆174Updated last year
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆203Updated 4 years ago
- cython + htslib == fast VCF and BCF processing☆396Updated 8 months ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆240Updated 6 months ago
- TransVar - multiway annotator for precision medicine☆125Updated 2 years ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆88Updated last month
- annotate a VCF with other VCFs/BEDs/tabixed files☆375Updated last year
- Annotation and Ranking of Structural Variation☆252Updated 2 months ago
- A flexible framework for rapid genome analysis and interpretation☆316Updated 2 years ago
- Haplotype VCF comparison tools☆428Updated last year
- ☆177Updated last year
- ☆272Updated 3 months ago
- The nimble & robust variant annotator☆178Updated last year
- Precision HLA typing from next-generation sequencing data☆199Updated last year
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆317Updated 11 months ago
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆268Updated last year
- lumpy: a general probabilistic framework for structural variant discovery☆326Updated 2 years ago
- Count bases in BAM/CRAM files☆315Updated 3 years ago
- Python wrapper -- and more -- for BEDTools (bioinformatics tools for "genome arithmetic")☆319Updated 2 months ago
- Plot structural variant signals from many BAMs and CRAMs☆541Updated 10 months ago
- The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants☆477Updated last week
- VarDict☆199Updated last year
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆196Updated last month
- Convert a VCF into a MAF, where each variant is annotated to only one of all possible gene isoforms☆386Updated 5 months ago
- structural variant calling and genotyping with existing tools, but, smoothly.☆250Updated 10 months ago
- Toolset for SV simulation, comparison and filtering☆378Updated last year
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆125Updated 5 years ago
- A structural variation pipeline for short-read sequencing☆187Updated this week