HGVS variant description extractor
☆11Sep 14, 2020Updated 5 years ago
Alternatives and similar repositories for description-extractor
Users that are interested in description-extractor are comparing it to the libraries listed below
Sorting:
- hgvslib provides functions to parse and compare the equivalency of variant strings described according to Human Genome Variation Society …☆18Dec 26, 2022Updated 3 years ago
- A Boolean Algebra for Genetic Variants☆12Updated this week
- Benchmarking toolkit for variant calling☆48Oct 13, 2020Updated 5 years ago
- Run multiple Pipeline5 instances at once☆11Jun 6, 2025Updated 9 months ago
- A curated list of awesome clonality and tumor heterogeneity resources☆15Jun 25, 2019Updated 6 years ago
- Paired Replicate Analysis of Allelic Differential Splicing Events☆12Feb 21, 2023Updated 3 years ago
- Tool suite for HGVS variant descriptions☆48Feb 23, 2026Updated 3 weeks ago
- The integrated pipeline for Indel detection☆17Apr 29, 2018Updated 7 years ago
- Repo for advertising and organizing CIViC unconference/meeting activities☆10Jul 24, 2025Updated 7 months ago
- normalize, left-align, trim, validate and clean VCF files☆20Jul 22, 2015Updated 10 years ago
- Write-once-read-many table for large datasets.☆27Oct 5, 2023Updated 2 years ago
- Python script for calling SNPs, MNPs, and indels in mitochondrial DNA.☆10Apr 19, 2016Updated 9 years ago
- Index and query k-mer matrices in BGZF☆12Apr 30, 2018Updated 7 years ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Dec 31, 2025Updated 2 months ago
- probability of mendelian error in trios.☆11Jan 27, 2016Updated 10 years ago
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆131Feb 13, 2020Updated 6 years ago
- Run multiple programs to check if a VCF is usable☆11May 15, 2020Updated 5 years ago
- haplotypes genotypes and alleles example decision synthesizer☆20Jun 13, 2019Updated 6 years ago
- Variant caller GUI + genetic disease analysis☆22Apr 29, 2020Updated 5 years ago
- ☆16Apr 25, 2017Updated 8 years ago
- Generate HTML report for a set of genomic regions or DESeq2/edgeR results☆10Jan 14, 2025Updated last year
- The Madeline 2.0 Pedigree Drawing Engine (PDE) is a pedigree drawing program designed to handle large and complex pedigrees with an empha…☆21Feb 20, 2026Updated last month
- Toil workflows for common genomic pipelines☆33Oct 3, 2019Updated 6 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Feb 12, 2022Updated 4 years ago
- gvcf aggregation tool☆12Feb 7, 2018Updated 8 years ago
- The Genome U-Plot is a JavaScript tool to visualize chromosomal abnormalities in the Human Genome using a U-shape layout.☆32Dec 10, 2022Updated 3 years ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆16Aug 9, 2018Updated 7 years ago
- HGVS variant nomenclature checker☆98May 1, 2023Updated 2 years ago
- The Exome Coverage and Identification Report displays the coverage of every target region in your capture design. It also displays regio…☆14Apr 22, 2015Updated 10 years ago
- A distributed computing cluster-in-a-box: Mesos, zookeeper, chronos, marathon, storm + add your own. Use other physical computers to add …☆25Sep 9, 2014Updated 11 years ago
- Manuscript describing ChronQC is now available online in Bioinformatics☆18Jun 25, 2019Updated 6 years ago
- Toolkit to analyze genomic variation data, built on the GATK with Clojure☆66Nov 2, 2015Updated 10 years ago
- a cythonized, extended version of the interval search tree in bx☆30Jun 4, 2019Updated 6 years ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆247Oct 18, 2024Updated last year
- What's The Function of these genes?☆22Mar 17, 2017Updated 9 years ago
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆34Dec 10, 2024Updated last year
- Aligner for sequencing data☆18Feb 13, 2018Updated 8 years ago
- An easy-to-use Python library for lightning-fast persistent function caching.☆18May 3, 2025Updated 10 months ago
- Generate an enhanced VCF files from ClinVar XML Full releases☆15Feb 23, 2026Updated 3 weeks ago