exomiser / Exomiser
A Tool to Annotate and Prioritize Exome Variants
☆208Updated last week
Alternatives and similar repositories for Exomiser:
Users that are interested in Exomiser are comparing it to the libraries listed below
- Extensible specification for representing and uniquely identifying biological sequence variation☆87Updated last week
- ☆174Updated last year
- TransVar - multiway annotator for precision medicine☆124Updated last year
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆122Updated 5 years ago
- A structural variation pipeline for short-read sequencing☆185Updated this week
- The Pharmacogenomic Clinical Annotation Tool☆128Updated last week
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆201Updated 4 years ago
- VarDict☆194Updated last year
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆191Updated last year
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆267Updated last year
- web-based analysis tool for rare disease genomics☆185Updated this week
- WDL Analysis Research Pipelines☆211Updated this week
- Annotation and Ranking of Structural Variation☆248Updated 3 weeks ago
- GA4GH Variation Representation Python Implementation☆53Updated this week
- The nimble & robust variant annotator☆176Updated 11 months ago
- A modular annotation tool for genomic variants☆118Updated 3 weeks ago
- ☆265Updated last month
- Annotates variants in MAF with OncoKB annotation.☆127Updated this week
- This Snakemake pipeline implements the GATK best-practices workflow☆250Updated last year
- tools for adding mutations to existing .bam files, used for testing mutation callers☆239Updated 5 months ago
- Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing☆133Updated 5 years ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆371Updated last year
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆197Updated last week
- Workflows for germline short variant discovery with GATK4☆134Updated 3 years ago
- Finder of Somatic Fusion Genes in RNA-seq data☆145Updated last year
- Tools to convert Illumina IDAT/BPM/EGT/GTC and Affymetrix CEL/CHP files to VCF☆146Updated last month
- A tool for estimating repeat sizes☆191Updated last year
- Annotation of VCF variants with functional impact and from databases (executable+library)☆59Updated last week
- A tool set for short variant discovery in genetic sequence data.☆196Updated 3 years ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆311Updated 9 months ago