About Quanterall Genhub Bioinformatics project

Duration10 months and ongoing
Team2 teams 7 people
Tech Stack
  • Elixir
  • Phoenix
  • Docker
  • Kubernetes

About GenHub

GenHub is a platform for management and comparison of human genomic data for clinical laboratories and medical genomics companies. It allows users to browse patients' data efficiently and see additional information and statistics. GenHub empowers doctors and clinical geneticists to quickly find insights about their patients and make new discoveries by easily comparing multiple genomes and patients' metadata.

The Challenge

Big challenge for clinical and research teams dealing with genomic data is to efficiently browse and compare patients' data, especially when they have to pool information from multiple files and sources. Through comparison between genomes, medical professionals and researchers achieve insights that allow them to provide better care for patients and advance scientific research. However, this task is not practically possible to complete without suitable software. Our partners from CellGenetics approached us with a request to build a custom platform for patients' genomic data browsing and comparison.

The Solution

The software automatically extracts data from VCF files containing patients' genomic variants, annotates it with useful information from multiple reference databases (such as affected genes, consequences, clinical significance, etc.), and visualises it in a way that allows quick and effortless browsing and comparison between patients. This way, users don't have to spend hours of bioinformatics analysis and use multiple specific tools with a complex learning curve. Instead, clinicians and researchers can interact with the data through a simple user-friendly interface and quickly find the information that they are interested in.

Key features

    GenHub platform allows clinicians/researchers to:
  • Upload patients genomic data files (VCF)
  • Browse automatically extracted and annotated data
  • Search information about individual patients
  • Compare information about multiple patients
  • Explore the impact of individual variants
  • Extract filtered data in CSV format

Our Future Plans

We aim to develop the platform further and allow users to customise it for their needs by choosing which features they want to be included or excluded. Later versions of the platform will also support advanced analyses to help clinicians and researchers achieve more insights about patients' genomes.

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