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lfresard/blood_rnaseq_rare_disease_paper

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This repository contains the code used to generate results presented in "Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts"

Pipeline

You can use our proposed pipeline to highlight candidate genes by following this code

Paper figures

You can find the code and data to reproduce the main figures here

You can find the code and data to reproduce the Extended Data Figures here

Citations

For citing code or the paper, please use this paper

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