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add pathway piece
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snadim02 committed Apr 25, 2024
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Expand Up @@ -5,6 +5,9 @@ This software package implements three well-calibrated statistical methods for a
2. genes recurrently impacted by inherited compound heterozygous variants across the cohort
3. genes harboring significant compound heterozygous variants in individual patients

Our [RaMeDiES wiki](https://github.com/hms-dbmi/RaMeDiES/wiki) also details how we ran our [pathway analysis](https://github.com/hms-dbmi/RaMeDiES/wiki/Pathway-analysis) to find biologically-related groups of genes impacted with
candidate variants across phenotypically similar patients.

If you use RaMeDiES in your work, please cite our publication:
> SN Kobren*, MA Moldovan*, R Reimers, D Traviglia, X Li, D Barnum, A Veit, J Willett, M Berselli, W Ronchetti, 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](https://www.biorxiv.org/content/10.1101/2024.02.13.580158v1).
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* [Cohort-level _de novo_ recurrence](https://github.com/hms-dbmi/RaMeDiES/wiki/Cohort-level-de-novo-recurrence)
* [Cohort-level compound heterozygosity](https://github.com/hms-dbmi/RaMeDiES/wiki/Cohort-level-compound-heterozygosity)
* [Individual-level compound heterozygosity](https://github.com/hms-dbmi/RaMeDiES/wiki/Individual-level-compound-heterozygosity)
* [Gene set enrichment across patient subgroups](https://github.com/hms-dbmi/RaMeDiES/wiki/Pathway-analysis)

:exclamation: Our statistical models operate at the level of "mutational targets" rather than individual-level variant data. These intermediate computed files can be shared freely to enable cross-cohort meta-analyses! See our [enabling cross-cohort analyses](https://github.com/hms-dbmi/RaMeDiES/wiki/Metaanalyses) wiki page for more details.

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