Home

Welcome to the RaMeDiES wiki!

Here you will find details about

• Preparing your input variant data
• Finding pathways enriched for variants across patient subgroups

as well as how to run our three statistical models

• Cohort-level de novo recurrence
• Cohort-level compound heterozygous variant recurrence
• Individual-level compound heterozygosity

Analyze your data with the Undiagnosed Diseases Network!

❓ Do you have trio-level exome or genome sequencing for an in-house cohort of affected individuals?

❓ Are any of these cases undiagnosed, and/or is reanalysis and reinterpretation of these cases sporadic at best?

Meta-analyze your data with the Undiagnosed Diseases Network patient cohort! Our RaMeDiES de novo and compound heterozygous recurrence models operate at the level of mutational targets, not individual variant-level data! This means our community (including you!) can perform fully deidentified cross-cohort meta-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! ⭐

Citation

SN Kobren*, MA Moldovan*, R Reimers, D Traviglia, X Li, D Barnum, A Veit, RI Corona, GdV Carvalho Neto, J Willett, M Berselli, W Ronchetti, SF Nelson, JA Martinez-Agosto, R Sherwood, J Krier, IS Kohane, Undiagnosed Diseases Network, SR Sunyaev (2024). "Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations." bioRxiv. doi: 10.1101/2024.02.13.580158.

Contact

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