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Related Experiment Video

Updated: Mar 11, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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The ExAC browser: displaying reference data information from over 60 000 exomes.

Konrad J Karczewski1,2, Ben Weisburd3,2, Brett Thomas3,2

  • 1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA konradjkarczewski@gmail.com.

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Summary

A new browser framework displays genetic variation data from large populations, aiding variant interpretation and gene function studies. This tool, used with Exome Aggregation Consortium (ExAC) data, is freely available for clinical applications.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Population Genetics

Background:

  • Large-scale human genome and exome sequencing generates vast datasets.
  • Interpreting genetic variants and understanding gene function requires accessible data visualization tools.

Purpose of the Study:

  • To develop a flexible browser framework for displaying large population genetic variation datasets.
  • To demonstrate the utility of this framework using data from the Exome Aggregation Consortium (ExAC).

Main Methods:

  • Development of a lightweight and flexible browser framework.
  • Integration and display of exome sequence data from 60,706 individuals (ExAC).
  • Implementation of gene- and transcript-centric variation displays, along with variant-specific annotations.

Main Results:

  • The ExAC browser provides gene- and transcript-centric views of genetic variation.
  • Variant displays include population frequency, functional annotation, and short read support.
  • The browser is open-source and has been widely adopted by clinical laboratories.

Conclusions:

  • The developed browser framework effectively visualizes large population genetic variation data.
  • This tool facilitates variant interpretation and enhances understanding of gene function in clinical settings.
  • The open-source availability promotes widespread use in genomic research and diagnostics.