PhD student in Bioinformatics for Rare Disease Research
Are you passionate about the application of bioinformatics to genome-based medicine? The Chair of Computational Molecular Medicine at the Technical University of Munich (TUM) is seeking a talented and driven individual to join our dynamic team. As part of the newly funded European project ERDERA, you will develop innovative bioinformatics methods to improve and accelerate diagnostics and identification of treatment options for rare diseases.
About us
The Chair of Computational Molecular Medicine, led by Prof Julien Gagneur, develops computational approaches to study genomes. Applications of our work range from understanding basic mechanisms governing gene expression to unravelling genetic aberrations triggering rare diseases and cancer. More at https://www.cs.cit.tum.de/cmm/home/.
The project
ERDERA, the European Rare Disease Research Alliance (https://www.ejprarediseases.org/erdera/) is a new 7‑year EC-funded project starting 1st September 2024. ERDERA aims to improve the diagnosis and treatment of rare diseases in Europe. It integrates under one roof research capacity, resources, and service from 171 public institutions, hospitals, and companies spanning patient recruitments, genome sequencing and omics profiling, data integration, software development for diagnosis and treatment recommendations, and the development of new therapeutics. ERDERA collaborates with national initiatives such as Germany’s genomic medicine project (https://www.bundesgesundheitsministerium.de/en/en/international/european-health-policy/genomde-en.html) that will yield 10,000s of genomes from routine diagnostics for research. Our team co-leads the ERDERA work package on “Diagnostic Research Workstream — Genomic innovation to shorten time to diagnosis”.
Your role
You will develop and apply methods that jointly process DNA variants and results derived from RNA-seq data to increase analysis speed and reliability. This will include improving and integrating non-coding variant annotation tools and aberrant event callers, for which our lab has made substantial contributions (e.g. AbSplice, AbExp, OUTRIDER, FRASER). You will integrate data from multiple centers, develop and implement workflows covering quality control procedures, comprehensive analysis, and automatically generated reports. Moreover, you will develop guidelines for results interpretation and follow-up on their implementation and outcome.
More information:
https://drive.google.com/file/d/1wQirTZABk6liyd-MIoZb_wMrAbkro0Pz/view