mutalyzer / description-extractor
HGVS variant description extractor
☆11Updated 4 years ago
Alternatives and similar repositories for description-extractor:
Users that are interested in description-extractor are comparing it to the libraries listed below
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆34Updated 4 months ago
- Stupid Simple Structural Variant View☆25Updated 8 years ago
- Wrapper for RTG's vcfeval; DEPRECATED!☆21Updated 9 years ago
- ☆37Updated 4 years ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50Updated 4 months ago
- Manuscript describing ChronQC is now available online in Bioinformatics☆18Updated 5 years ago
- What's The Function of these genes?☆22Updated 8 years ago
- Mapping-free variant caller for short-read Illumina data☆19Updated 5 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Prioritize structural variants based on CADD scores☆29Updated 4 years ago
- program for haplotype phasing from sequence reads and related tools☆25Updated 6 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Variant caller GUI + genetic disease analysis☆22Updated 4 years ago
- robust matching of small variant datasets using flexible scoring schemes☆10Updated 5 years ago
- Integrated Variant Caller☆17Updated 7 years ago
- hgvslib provides functions to parse and compare the equivalency of variant strings described according to Human Genome Variation Society …☆18Updated 2 years ago
- Graphite - Graph-based variant adjudication☆28Updated 4 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- Simplify snpEff annotations for interesting cases☆21Updated 6 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- ☆16Updated 8 years ago
- a pileup library that embraces the huge☆42Updated 4 years ago
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆38Updated last year
- Structural Variant Prediction Viewer☆34Updated 7 years ago
- The integrated pipeline for Indel detection☆17Updated 6 years ago
- Call regions of homozygosity and make tentative UPD calls☆11Updated 5 months ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 2 months ago
- Toil workflows for common genomic pipelines☆33Updated 5 years ago
- This repository contains information about ongoing analysis performed by GIAB☆14Updated 5 years ago