An open source software platform for rare disease genomics
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About xBrowse

xBrowse is a software toolkit for studying rare genetic diseases. It provides a variety of methods for analyzing the genetic variants that are produced by next generation sequencing (NGS) data. xBrowse contains a web interface and a (Python) analysis library, so it can be deployed as a standalone website or as part of a bioinformatics pipeline.

What you can do with xBrowse
  • Identify disease causing variants: Search for variant(s) that cause Mendelian disease in a family or individual, using community best practices for prioritizing variants.
  • Aggregate results across patients: Combine a group of samples with a similar rare phenotype, to see if there is a burden of variants that should be studied further.
  • Integrate different data sources: Browse contextual information for variants and genes such as deleteriousness predictions and population allele frequencies.
Other things we like
  • Modern responsive web interface: Web interface aims to make researchers as productive as possible. (And it works great on mobile!)
  • Designed for collaborations: Can be used by one researcher analyzing one sample, or in a collaboration where dozens of researchers are studying hundreds of families. Features for tracking variants are built in.
  • Access to reference data: Useful reference datasets are baked in to the xBrowse interface - so you see data when it is most useful.
Who We Are

xBrowse is developed at the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital (MGH). Our work is in collaboration with the Broad Institute of Harvard and MIT.

Ben Weisburd
Ben is now heading up xBrowse development.
Email - LinkedIn
Brett Thomas
Brett built xBrowse and continues to be involved in feature development.
Email - LinkedIn
Daniel MacArthur
Daniel is an Assistant Professor at Harvard Medical School that leads the research for xBrowse. Much of the science that powers xBrowse is being developed in Daniel's lab.
Lab Website - Twitter - LinkedIn
Mark Daly
Mark is the Chief of ATGU and the initial visionary behind xBrowse. His guidance and support has enabled xBrowse from its inception.
Lab Website