exomiser / ExomiserLinks
A Tool to Annotate and Prioritize Exome Variants
☆239Updated last week
Alternatives and similar repositories for Exomiser
Users that are interested in Exomiser are comparing it to the libraries listed below
Sorting:
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- A structural variation pipeline for short-read sequencing☆201Updated this week
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆206Updated 2 years ago
- ☆189Updated 2 years ago
- The nimble & robust variant annotator☆190Updated last year
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆207Updated 4 years ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆94Updated this week
- Warp Analysis Research Pipelines☆225Updated this week
- web-based analysis tool for rare disease genomics☆200Updated this week
- GA4GH Variation Representation Python Implementation☆61Updated this week
- The Pharmacogenomic Clinical Annotation Tool☆156Updated 3 weeks ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆203Updated last month
- Personal Cancer Genome Reporter (PCGR)☆274Updated 4 months ago
- Workflows for germline short variant discovery with GATK4☆139Updated 4 years ago
- A tool for estimating repeat sizes☆205Updated 2 years ago
- Annotation and Ranking of Structural Variation☆286Updated 4 months ago
- VarDict☆201Updated 2 years ago
- HGVS variant name parsing and generation☆176Updated 2 years ago
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆279Updated 8 months ago
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆131Updated 5 years ago
- List of gene lists for genomic analyses.☆225Updated 3 years ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆331Updated 8 months ago
- VarDict Java port☆138Updated 2 years ago
- Scalable gVCF merging and joint variant calling for population sequencing projects☆174Updated last year
- Precision HLA typing from next-generation sequencing data☆208Updated last year
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆160Updated 3 years ago
- Count bases in BAM/CRAM files☆323Updated 4 years ago
- Documentation and description of AWS iGenomes S3 resource.☆120Updated last year
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆233Updated 3 years ago
- A flexible framework for rapid genome analysis and interpretation☆319Updated 3 years ago