VCF visualization interface

This fork of Illumina/ExpansionHunter introduces new features and optimizations

A tool for estimating repeat sizes

Small library for mocking pymongo collection objects for testing purposes

An extremely fast Python package and project manager, written in Rust.

Annotate models of genetic inheritance patterns in variant files (vcf files)

Framework for building fast genomics web tools with WebAssembly and WebWorkers

Phenopacket API UDNI tip2toe backend for deep phenotyping

UDNI tip2toe deep phenotyping frontend

Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat

Small reference files

Command line script for querying the phenomizer tool with HPO terms

Tools for plotting methylation data in various ways

Genetics graphing tool

A rest service for generating REViewer output.

FetaL AneUploidy and FetalFraction analYsis Pipeline

Ontology for the description of human clinical features

A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS

structural variant database software

Report generator for Chanjo output

Call regions of homozygosity and make tentative UPD calls

Glue between Clinical Genomics apps

Keep track of and manage analyses

Embeddable genomic visualization component based on the Integrative Genomics Viewer