Context: We are currently seeking a talented and motivated Bioinformatician to join our team for an exciting project funded by the European Horizon Europe 2022.

Background: Ciliopathies, a group of rare genetic diseases, result from primary cilium dysfunction and manifest in various severe disorders. TheRaCil project aims to enhance the diagnosis and prognosis of pediatric renal ciliopathy patients while implementing therapeutic approaches. The project involves a consortium of European partners leveraging unique databases and multi-omics data for patient stratification and identification of therapeutic targets.

Mission Objectives: The recruited professional will play a crucial role in two key aspects of TheRaCil project:

• Genetic Modifiers of Renal Disease Onset:

  • Replicate and expand upon WGS project on genetic modifiers of age at onset of ESKD;

  • Utilize genomics data within the consortium for further GWAS analyses, identifying new modifiers ;

  • Study the functional impact of genetic modifiers through RNAseq experiments.

• Molecular Signatures of Therapeutic Interventions:

  • Analyze scRNASeq and snRNASeq data from human cellular and mouse models to understand the impact of therapeutic interventions on molecular signatures ;

  • Identify primary target cell populations, evaluate single-cell responses, and assess immune cell occurrence.

Required Knowledge:

• Bioinformatic analyses of NGS data (WES, WGS, RNAseq) ;

• Statistical analyses of Omics data (GWAS, enrichment analysis, differential gene expression analysis) ;

• Knowledge of machine learning ;

• Familiarity with scRNA-seq data analysis ;

• General knowledge in genetics and molecular biology ;

• English proficiency (B2 to C1).

Operational Skills:

• Mastery of Unix/Linux environment and programming languages (Python, R) ;

• Proficiency in exome/genome analysis, including variants annotation and prioritization ;

• Knowledge of public genomic databases (NCBI, GenCode, gnomAD, Biomart, etc.) ;

• Data management skills for large-scale datasets ;

• Report writing and presentation skills in English and French.

Desired Experience: 2 to 5 years of research experience.

Desired Training: Engineering degree or PhD.

Recruitment Level: According to IMAGINE salary scales - 24-month fixed-term contract.

Location: Dual assignment in Sophie Saunier’s “Molecular Bases of Inherited Renal Diseases” team and the “Bioinformatics” platform at UMR 1163-Institut Imagine.

Job Opening Date: January 2024

How to Apply: Please submit your resume, a cover letter, and contact information for references to email to Sophie SAUNIER and Fabienne JABOT-HANIN

sophie.saunier@inserm.fr / fabienne.hanin@parisdescartes.fr