exomiser / ExomiserLinks
A Tool to Annotate and Prioritize Exome Variants
☆220Updated this week
Alternatives and similar repositories for Exomiser
Users that are interested in Exomiser are comparing it to the libraries listed below
Sorting:
- Extensible specification for representing and uniquely identifying biological sequence variation☆90Updated 3 months ago
- web-based analysis tool for rare disease genomics☆189Updated this week
- A structural variation pipeline for short-read sequencing☆190Updated this week
- ☆178Updated 2 years ago
- The nimble & robust variant annotator☆182Updated last year
- The Pharmacogenomic Clinical Annotation Tool☆140Updated 2 months ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆203Updated 4 years ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆196Updated 2 years ago
- TransVar - multiway annotator for precision medicine☆126Updated 2 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…☆127Updated 5 years ago
- Collect of SO Ontologies☆100Updated last week
- Annotation and Ranking of Structural Variation☆261Updated 2 weeks ago
- Warp Analysis Research Pipelines☆213Updated this week
- HGVS variant name parsing and generation☆175Updated 2 years ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆163Updated 10 months ago
- A flexible framework for rapid genome analysis and interpretation☆317Updated 2 years ago
- a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads☆202Updated 3 months ago
- Personal Cancer Genome Reporter (PCGR)☆268Updated this week
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆269Updated last month
- VarDict☆198Updated last year
- A modular annotation tool for genomic variants☆125Updated last month
- Workflows for germline short variant discovery with GATK4☆138Updated 4 years ago
- A tool for estimating repeat sizes☆195Updated last year
- A tool set for short variant discovery in genetic sequence data.☆200Updated 4 years ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆320Updated last month
- Count bases in BAM/CRAM files☆319Updated 3 years ago
- An information model for representing variant annotations.☆20Updated last week
- Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`☆269Updated this week
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆224Updated 3 years ago
- This is the repository for the Python based program for automated deep phenotype analysis of clinical information using large language mo…☆11Updated 2 months ago