IdR46/26 - Application of whole exome sequencmg (WES) to identify the genetic basis in patients with a complex phenotype

Position: Research appointment (pre-doc) Institute: Uni. Verona
Posted on: 30/04/2026 Deadline: 25/05/2026

Scientific-Disciplinary Group

05/BIOS-14 - Genetics

Description

The project is aimed at applying whole exome sequencing (WES) to identify the genetic basis of patients with complex phenotypes. The analysis will primarily focus on the coding regions of the genome, while also extending to regulatory regions and non-conventional genetic mechanisms, such as mosaicism, m order to improve the identification of pathogenic variants. Genomic data will be integrated with transcriptomic analyses using RNA sequencing (RNA-seq) to support the functional interpretation of the identified variants. This integrated genomic-transcriptomic approach will enhance variant prioritization, clarify the significance of variants of uncertain significance, and identify regulatory defects that cannot be detected by DNA sequencing alone, thereby contributing to a more accurate molecular characterization of patients.

Compensation

22,500 Euro

Job posting website

https://www.univr.it/it/concorsi/contratti-e-assegni-di-ricerca/incarichi-di-ricerca/0/16105

Number of positions

1

Maximum duration

12.0

Funding body

Università degli Studi di Verona

How to apply

Other

Selection process

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The competition will be carried out by an evaluation of titles and examination by means of an interview. For admission to the selection process referred to in Art. 1, potential candidates must fulfil the following requirements:a) Master’s Degree in the field of Biology (LM-6), Industrial Biotechnology (LM-8), Medical, Veterinary and Pharmaceutical Biotechnology (LM-9) [Laurea Magistrale o a ciclo unico awarded pursuant to Art. 3(1n), Ministerial Decree no. 270 of 22/10/04], obtained no more than six years before the expiry date of this call;b) Possession of a curriculum suitable for assisting in carrying out research activities;c) Knowledge of the following foreign language: English.

View the original posting on the MUR website: Go to MUR website

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