broadinstitute / seqr
web-based analysis tool for rare disease genomics
☆180Updated this week
Alternatives and similar repositories for seqr:
Users that are interested in seqr are comparing it to the libraries listed below
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆306Updated 7 months ago
- A tool set for short variant discovery in genetic sequence data.☆194Updated 3 years ago
- VarDict☆191Updated last year
- Annotation and Ranking of Structural Variation☆228Updated this week
- Bayesian haplotype-based mutation calling☆306Updated last year
- HGVS variant name parsing and generation☆173Updated last year
- This Snakemake pipeline implements the GATK best-practices workflow☆245Updated last year
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆190Updated last year
- tools for adding mutations to existing .bam files, used for testing mutation callers☆238Updated 3 months ago
- A structural variation pipeline for short-read sequencing☆175Updated this week
- Plot structural variant signals from many BAMs and CRAMs☆535Updated 6 months ago
- C++ API & command-line toolkit for working with BAM data☆421Updated 6 months ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆195Updated 3 years ago
- BEDOPS: high-performance genomic feature operations☆307Updated 11 months ago
- Documentation for the ANNOVAR software☆236Updated 2 months ago
- Tools for processing and analyzing structural variants.☆150Updated 2 years ago
- Count bases in BAM/CRAM files☆309Updated 2 years ago
- Fast and accurate gene fusion detection from RNA-Seq data☆230Updated 2 months ago
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆262Updated last year
- Annotation-free quantification of RNA splicing. Yang I. Li, David A. Knowles, Jack Humphrey, Alvaro N. Barbeira, Scott P. Dickinson, Hae …☆209Updated 7 months ago
- DELLY2: Structural variant discovery by integrated paired-end and split-read analysis☆454Updated this week
- Strelka2 germline and somatic small variant caller☆362Updated 3 years ago
- Workflows for germline short variant discovery with GATK4☆133Updated 3 years ago
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆149Updated 2 years ago
- The nimble & robust variant annotator☆174Updated 8 months ago
- This repository contains data indexes from NIST's Genome in a Bottle project.☆239Updated last year
- Structural variation and indel detection by local assembly☆239Updated last month
- Finder of Somatic Fusion Genes in RNA-seq data☆143Updated last year
- This repository contains chromosome/contig name mappings between UCSC <-> Ensembl <-> Gencode for a variety of genomes.☆237Updated 2 years ago
- Automatic Filtering, Trimming, Error Removing and Quality Control for fastq data☆208Updated 4 years ago