WGLab / InterVarLinks
A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
☆206Updated 2 years ago
Alternatives and similar repositories for InterVar
Users that are interested in InterVar are comparing it to the libraries listed below
Sorting:
- Count bases in BAM/CRAM files☆323Updated 4 years ago
- VarDict☆201Updated 2 years ago
- Documentation for the ANNOVAR software☆245Updated 6 months ago
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆233Updated 3 years ago
- Fast and accurate gene fusion detection from RNA-Seq data☆259Updated 4 months ago
- Annotation and Ranking of Structural Variation☆286Updated 4 months ago
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆165Updated 2 years ago
- Workflows for germline short variant discovery with GATK4☆139Updated 4 years ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆331Updated 8 months ago
- This Snakemake pipeline implements the GATK best-practices workflow☆262Updated 2 years ago
- A structural variation pipeline for short-read sequencing☆201Updated this week
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆160Updated 3 years ago
- The nimble & robust variant annotator☆190Updated last year
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆203Updated last month
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆207Updated 4 years ago
- a lightweight bam file depth statistical tool☆160Updated last year
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- A flexible framework for rapid genome analysis and interpretation☆319Updated 3 years ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆247Updated last year
- STAR-Fusion codebase☆248Updated 4 months ago
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆279Updated 8 months ago
- A tool for estimating repeat sizes☆205Updated 2 years ago
- Strelka2 germline and somatic small variant caller☆389Updated 4 years ago
- Gene fusion detection and visualization☆131Updated 3 years ago
- a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads☆210Updated 4 months ago
- Miscellaneous collection of Python and R scripts for processing Iso-Seq data☆278Updated 2 years ago
- Automatic Filtering, Trimming, Error Removing and Quality Control for fastq data☆212Updated 5 years ago
- Full-Length Alternative Isoform analysis of RNA☆246Updated this week
- ☆302Updated last week
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆175Updated last year