WGLab / InterVarLinks
A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
☆197Updated 2 years ago
Alternatives and similar repositories for InterVar
Users that are interested in InterVar are comparing it to the libraries listed below
Sorting:
- VarDict☆198Updated last year
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆226Updated 3 years ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆197Updated 3 weeks ago
- This Snakemake pipeline implements the GATK best-practices workflow☆257Updated 2 years ago
- Fast and accurate gene fusion detection from RNA-Seq data☆245Updated this week
- Documentation for the ANNOVAR software☆244Updated 3 weeks ago
- A structural variation pipeline for short-read sequencing☆192Updated this week
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆162Updated 2 years ago
- Annotation and Ranking of Structural Variation☆262Updated this week
- STAR-Fusion codebase☆244Updated last week
- Count bases in BAM/CRAM files☆319Updated 3 years ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆204Updated 4 years ago
- Precision HLA typing from next-generation sequencing data☆202Updated last year
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆323Updated 3 months ago
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆155Updated 3 years ago
- ☆288Updated 6 months ago
- A flexible framework for rapid genome analysis and interpretation☆317Updated 2 years ago
- The nimble & robust variant annotator☆184Updated last year
- a lightweight bam file depth statistical tool☆152Updated 11 months ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆244Updated 10 months ago
- Workflows for germline short variant discovery with GATK4☆138Updated 4 years ago
- a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads☆202Updated this week
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆271Updated 3 months ago
- Strelka2 germline and somatic small variant caller☆377Updated 3 years ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆166Updated last year
- Full-Length Alternative Isoform analysis of RNA☆234Updated this week
- annotate a VCF with other VCFs/BEDs/tabixed files☆383Updated last month
- Pindel can detect breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants …☆173Updated 5 years ago
- DELLY2: Structural variant discovery by integrated paired-end and split-read analysis☆484Updated 2 weeks ago