exomiser / ExomiserLinks
A Tool to Annotate and Prioritize Exome Variants
☆226Updated this week
Alternatives and similar repositories for Exomiser
Users that are interested in Exomiser are comparing it to the libraries listed below
Sorting:
- web-based analysis tool for rare disease genomics☆193Updated this week
- The nimble & robust variant annotator☆184Updated last year
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆197Updated 2 years ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆204Updated 4 years ago
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆93Updated last month
- GA4GH Variation Representation Python Implementation☆59Updated 2 weeks ago
- Warp Analysis Research Pipelines☆215Updated last week
- ☆180Updated 2 years ago
- A structural variation pipeline for short-read sequencing☆192Updated last week
- HGVS variant name parsing and generation☆175Updated 2 years ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆383Updated last month
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆126Updated 5 years ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆323Updated 3 months ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆244Updated 10 months ago
- List of gene lists for genomic analyses.☆222Updated 3 years ago
- The Pharmacogenomic Clinical Annotation Tool☆145Updated last week
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆197Updated 3 weeks ago
- Precision HLA typing from next-generation sequencing data☆202Updated last year
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆271Updated 3 months ago
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆155Updated 3 years ago
- VarDict☆198Updated last year
- Personal Cancer Genome Reporter (PCGR)☆268Updated last month
- A tool for estimating repeat sizes☆196Updated last year
- Workflows for germline short variant discovery with GATK4☆138Updated 4 years ago
- Annotation and Ranking of Structural Variation☆262Updated last week
- Annotates variants in MAF with OncoKB annotation.☆134Updated last month
- HGVS variant nomenclature checker☆98Updated 2 years ago
- Collect of SO Ontologies☆100Updated 3 weeks ago
- Phenotype driven gene prioritization for HPO☆47Updated 4 years ago