Working space for the GIAB TR benchmarking project

Modular Multi-scale Integrated Genome Graph Browser

POSTRE: Prediction Of STRuctural variant Effects

igraph R package

Toolset for SV simulation, comparison and filtering

Fast algorithms for fitting topic models and non-negative matrix factorizations to count data.

Algorithm to implement Fraction and Copy number Estimate from Tumor/normal Sequencing.

A list of interesting genome browser or genome-browser-like implementations

Tandem repeat genotyping and visualization from PacBio HiFi data

An online pedigree tool for research applications. Build pedigrees interactively and store as images or text files in ped format. QuickPed also computes a variety of relatedness coefficients and of…

Plot structural variant signals from many BAMs and CRAMs

A single molecule sequence assembler for genomes large and small.

Rareservoir Database Tools

A modular annotation tool for genomic variants

A GPT-4 AI Tutor Prompt for customizable personalized learning experiences.

WebApp for DNA variants interpretation

LIkelihood Ratio Interpretation of Clinical AbnormaLities

DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.

The nimble & robust variant annotator

The AI Code Editor

a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads

The complete sequence of a human genome

Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium. These files can be used as standard resource of BED files …

Bootstrap 4 shinydashboard using AdminLTE3

An interactive visualization tool to analyze CNV from Short Read WGS data

🐝 Awesome R and Python packages offering extended UI or server components for the web framework Shiny

BigWig and BAM utilities