mutalyzer / description-extractorLinks
HGVS variant description extractor
☆11Updated 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:
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆34Updated 10 months ago
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- Manuscript describing ChronQC is now available online in Bioinformatics☆18Updated 6 years ago
- (WIP) best-practices workflow for rare disease☆62Updated last year
- program for haplotype phasing from sequence reads and related tools☆25Updated 6 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆25Updated 9 years ago
- What's The Function of these genes?☆22Updated 8 years ago
- Integrated Variant Caller☆17Updated 7 years ago
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- Stupid Simple Structural Variant View☆25Updated 8 years ago
- a pileup library that embraces the huge☆43Updated 5 years ago
- localised duplicate detection on patterned flow cells☆10Updated 6 years ago
- The gkno launcher for executing tools or pipelines☆31Updated 8 years ago
- This repository contains information about ongoing analysis performed by GIAB☆15Updated 6 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- ☆36Updated 5 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated 2 years ago
- Graphite - Graph-based variant adjudication☆28Updated 4 years ago
- Human mitochondrial variants annotation using HmtVar.☆18Updated 2 years ago
- Browser based application for viewing bam alignments☆56Updated 8 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- Simple vcf parser, based on PyVCF☆47Updated 6 years ago
- ☆16Updated 8 years ago
- Utilities to create and analyze gVCF files☆38Updated 8 years ago
- Sample Contamination Estimate from VCF☆21Updated last year
- Variant caller GUI + genetic disease analysis☆22Updated 5 years ago
- Example project for integrating igv.js and flask☆26Updated 5 months ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50Updated 10 months ago