A VdA reference genome will be assembled. This project is funded by Regione Val d’Aosta and the Italian Institute of Technology and in partnership with hospitals in Val d’Aosta and Piemonte regions and Engineering Ingegneria Informatica. The selected applicant will focus on different projects involving the identification and comparison of germinal and somatic variants in individuals with neurodegenerative disease and healthy controls. Therefore, she/he will need to exploit state-of-the-art and develop new methods and pipelines for structural variant detection and prioritization using either short or long reads and a specific attention will be given to mobile elements insertion. Population and association analyses will be conducted to find the causes of such diseases and the possible involvement of non-coding variants. The candidate will have the opportunity to use data generated from innovative sequencing technologies (NovaSeq6000 and Nanopore PromethION) and software for variant calling (Nvidia-Parabricks for GPU technology) along with a brand new HPC system.
Knowledge of Linux OS, programming skills (e.g. PERL, R, Python, Bash) and of basics in biology are needed.

Applicants must send an updated CV and a motivation letter. A master degree in a scientific discipline is a must as well as an equivalence certificate for non-EU citizens.

Link for the public advertisement: https://lnkd.in/dGTTMtF2
Bursary code: 10C