broadinstitute / seqr
web-based analysis tool for rare disease genomics
☆176Updated this week
Related projects ⓘ
Alternatives and complementary repositories for seqr
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆301Updated 5 months ago
- Tools for processing and analyzing structural variants.☆150Updated 2 years ago
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆258Updated 10 months ago
- VarDict☆187Updated 10 months ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆366Updated 11 months ago
- Workflows for germline short variant discovery with GATK4☆133Updated 3 years ago
- HGVS variant name parsing and generation☆171Updated last year
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆148Updated 2 years ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆192Updated 3 years ago
- Annotation and Ranking of Structural Variation☆221Updated 2 months ago
- ☆174Updated last year
- A structural variation pipeline for short-read sequencing☆171Updated this week
- A tool set for short variant discovery in genetic sequence data.☆192Updated 3 years ago
- TransVar - multiway annotator for precision medicine☆118Updated 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 4 years ago
- The nimble & robust variant annotator☆171Updated 6 months ago
- ☆81Updated 5 years ago
- Bayesian haplotype-based mutation calling☆305Updated last year
- Microassembly based somatic variant caller for NGS data☆154Updated 2 years ago
- Finder of Somatic Fusion Genes in RNA-seq data☆142Updated last year
- tools for adding mutations to existing .bam files, used for testing mutation callers☆233Updated last month
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆189Updated last year
- Precision HLA typing from next-generation sequencing data☆190Updated 8 months ago
- A tool for estimating repeat sizes☆182Updated 9 months ago
- BEDOPS: high-performance genomic feature operations☆300Updated 9 months ago
- C++ API & command-line toolkit for working with BAM data☆418Updated 4 months ago
- Structural variation and indel detection by local assembly☆236Updated this week
- VarDict Java port☆129Updated 10 months ago
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆141Updated 2 weeks ago
- DELLY2: Structural variant discovery by integrated paired-end and split-read analysis☆444Updated 3 weeks ago