About the SHaRe Genomic Data Browser

Overview

The SHaRe Genomic Data Browser is an open-source, interactive web application built to help researchers, clinicians, and geneticists explore genomic data related to Hypertrophic Cardiomyopathy (HCM). The browser consolidates variant data from the Sarcomeric Human Cardiomyopathy Registry (SHaRe), a large international network of specialized HCM centers consisting of 17 sites across 12 countries. Each center collects and maintains comprehensive longitudinal genetic, phenotypic, and outcome data on HCM patients and their families. SHaRe includes ~12,000 HCM patients. The processes, methods of data collection, and data curation have previously been described (Ho 2018).

The project is overseen by Pantazis Theotokis, Sophie Hespe, George Powell, Jodie Ingles, and James Ware. A list of investigators that have contributed data is available below.

Key Features

The browser is structured around two primary exploration modules to help users seamlessly navigate HCM-associated genetic data:

• Gene View: A macro-level visualization tool. Users can select from a curated list of 29 HCM-associated genes defined by the recent ClinGen re-curation of HCM (Hespe 2025) to explore the broader landscape, spatial distribution, and frequency of variants across the entire gene.
• Variant View: A deep-dive interface designed for granular analysis. This tab provides the detailed annotations, variant classification, and links to external resources for variant evidence.

Institutional Partners

This tool is the result of an international collaboration across leading medical and genetic research institutions. It is supported and developed through the joint efforts of:

• The SHaRe Registry (Sarcomeric Human Cardiomyopathy Registry)
• Garvan Institute of Medical Research
• Imperial College London
• MRC Laboratory of Medical Sciences (LMS)

Open Source & Support

We believe in the power of open science. The source code for the SHaRe Genomic Data Browser is maintained by the Cardiovascular Genomics Precision Medicine team at MRC Laboratory of Medical Sciences (LMS) and is publicly available for review and contribution on GitHub.

All rights reserved.

If you have questions, feedback, or need to report any issues with the browser, please contact the web administrator at p.theotokis@imperial.ac.uk.

If you have any questions or feedback on the genetic data, please email s.hespe@garvan.org.au.

Data contributors

• Sophie Hespe
• Pantazis Theotokis
• George Powell
• James S. Ware
• Jodie Ingles
• Carolyn Y Ho
• Neal K Lakdawala
• Christoffer R Vissing
• Lia Crotti
• Belinda Gray
• John C Stendahl
• Sara Saberi
• Thomas D Ryan
• Alexandre C Pereira
• Anjali Owens
• Iacopo Olivotto
• Francesca Girolami
• Erin M Miller
• Michelle Michels
• Joseph Rossano
• Kim Y Lin
• Rachel Lampert
• Adam S Helms
• Sharlene M Day
• Victoria N Parikh
• Dominic Abrams
• Brian Claggett
• Kathryn McGurk
• Rachel Buchan
• Pantazis Theotokis
• Alexandra Butters
• Ebony Richardson
• Natasha Henden
• Lucas A Mitchell
• Neesha Krishnan
• Amy Baker
• Natalie Stewart
• Laura Catto