About Us: The Institute Imagine (https://www.institutimagine.org/) is a world-renowned research institution dedicated to advancing the understanding of rare genetic diseases. Located in Paris, our institute brings together a diverse team of scientists, clinicians, and experts to collaborate on groundbreaking research projects that have the potential to transform the lives of individuals affected by rare genetic disorders. Our commitment to innovation, discovery, and patient-centered care has made us a leader in the field of rare diseases research.

Context: We are currently seeking a talented and motivated Bioinformatician for an exciting project funded by the European Horizon Europe aimed at advancing therapies for renal ciliopathies (https://theracil.eu). The candidate will join the lab of Dr. S. Saunier (Laboratory of Hereditary Kidney Diseases), a leader in functional studies on renal ciliopathies and the Bioinformatics platform at IMAGINE (led by P. Nitschké),

Background: Ciliopathies, a group of rare genetic diseases, result from primary cilium dysfunction and manifest in various severe disorders. These disorders, which include polycystic kidney diseases (ARPKD and ADPKD) and nephronophthisis, often lead to the progressive deterioration of renal function, resulting in late-stage renal disease. The project’s laboratory aims to enhance the diagnosis and prognosis of 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 analyze and integrate "omics" data, including WGS, RNA-Seq, and proteomics from patient cells, kidney organoids, and mouse models. Key tasks include analyzing scRNASeq and snRNASeq data to assess the impact of therapeutic interventions, identify target cell populations, and evaluate single-cell responses and immune cell involvement. The candidate will work closely with biologists and other bioinformaticians involved in the consortium.

Required Knowledge:

• Bioinformatic analyses of NGS data (WES, WGS, ATAC-seq, RNAseq).

• Familiarity with scRNA-seq data analysis.

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

• Knowledge of machine learning.

• General knowledge and strong interest 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.

• Enjoy working in a team and collaborating with other scientists, including bioinformaticians

Desired Experience: 2 to 5 years of research experience.

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: November 2024