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seqr

seqr is a web-based tool for rare disease genomics. This repository contains code that underlies the Seqr Canada seqr instance and other seqr deployments. To check for any active incidents occurring on the Seqr Canada seqr instance, check here

Technical Overview

seqr consists of the following components:

  • postgres - SQL database used by seqr to store project metadata and user-generated content such as variant notes, etc.
  • clickhouse - High-performance SQL database used to store variant data.
  • redis - in-memory cache used to speed up request handling.
  • seqr - the main client-server application built using react.js, python and django.
  • pipeline-runner - server for running hail pipelines to annotate and load new datasets into clickhouse.

Install

The seqr production instance runs on the HPC4Health infrastructure, which includes servers and hardware purchased by the CHEO-RI.

On-prem installs can be created using helm

To set up seqr for local development, see instructions here

Updating / Migrating a seqr Instance

Instructions for updating an existing seqr instance to the latest version are found here

Contributing to seqr

Refer to the upstream repository for any contribution efforts.

About

web-based analysis tool for rare disease genomics. Forked from Broad Institute, hosted for CFI on G4RD

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