exomiser / ExomiserLinks
A Tool to Annotate and Prioritize Exome Variants
☆228Updated last month
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☆194Updated this week
- A structural variation pipeline for short-read sequencing☆194Updated this week
- Extensible specification for representing and uniquely identifying biological sequence variation☆94Updated 2 months ago
- The nimble & robust variant annotator☆185Updated last year
- The Pharmacogenomic Clinical Annotation Tool☆146Updated this week
- ☆180Updated 2 years ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆197Updated 2 years ago
- Annotates variants in MAF with OncoKB annotation.☆135Updated 2 months ago
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- Warp Analysis Research Pipelines☆215Updated this week
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆205Updated 4 years ago
- 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
- HGVS variant name parsing and generation☆175Updated 2 years ago
- VarDict☆198Updated last year
- Annotation and Ranking of Structural Variation☆263Updated 2 weeks ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆244Updated 11 months ago
- GA4GH Variation Representation Python Implementation☆60Updated this week
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆199Updated 2 months ago
- A tool for estimating repeat sizes☆198Updated last year
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆171Updated last year
- annotate a VCF with other VCFs/BEDs/tabixed files☆383Updated last month
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆274Updated 4 months ago
- a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads☆205Updated last week
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆326Updated 4 months ago
- A modular annotation tool for genomic variants☆129Updated last week
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆158Updated 3 years ago
- Personal Cancer Genome Reporter (PCGR)☆270Updated last week
- Workflows for germline short variant discovery with GATK4☆138Updated 4 years ago
- List of gene lists for genomic analyses.☆222Updated 3 years ago
- Gene fusion detection and visualization☆128Updated 3 years ago