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Welcome to the RaMeDiES wiki!

Our statistical models operate at the level of mutational targets, enabling cross-cohort analyses of rare disease patients which will be essential for improved disease gene discovery and diagnosis! We highly encourage you to share summary statistics of your rare disease cohort for this purpose!

Here you will find details about

• Preparing your input variant data
• Custom variant configuration

as well as how to run and customize our three statistical models

• De novo recurrence
• Comphet recurrence
• Individual comphets

Please message Mikhail Moldovan or Shilpa Kobren at {first name}_{last name} at hms.harvard.edu if you have questions or are interested in contributing to a meta-analysis!