Exome Pipe Review

Introduction

This is a website that allows geneticists to review Exomiser analysis of subject's exomes for likely causative variants in their disease phenotype. This project has been split into two main directories:

• exome-api: The backend API which serves exomiser analysis to the frontend
• exome-client: Frontend of website built in ReactJS

Further details on launching the project are found in exome-api and exome-client

JSON Data Specifications for Database

Much of the code is based around reading the JSON correctly, so it is important this remains consistent.

• JSON generated by Exomiser 12.1.0.
• VCFs for Exomiser generated by nf-core/sarek (using GRCh37, HaplotypeCaller, and snpEff)

Ideas for future development

• Prettify reactJS frontend
• Move users list into the database