PhD student / bioinformatics scientist | Radboud University Medical Centre

Project title: Population variation for genome interpretation

The widespread application of genome-wide next generation sequencing (NGS) methodologies has rapidly lead to the identification of many new Mendelian disease genes. Interpretation of the thousands of single nucleotide variants identified in a single individual is one of the most profound challenges in genetics today, both from a research as well as from a diagnostic perspective. This project attempts to extend the current bioinformatic methodologies for variants interpretation with new approaches based on large quantities of variation occurring with normal populations that have recently become available through large scale sequencing projects. Specifically this project focuses on Intellectual disability as a model disease.

The position is that of a PhD student. You will be a part of the translational genomics group, and member of the Institute of Genetic and Metabolic Disorders (IGMD) and NCMLS research school with all privileges and duties attached to it. See also the website of Genomic Disorders Nijmegen

Key words: Bioinformatics, genomics, genetic variation, intellectual disability.

Profile

We are looking for a bioinformatics scientist with a strong drive to pursue a carrier in science, and the ability to work in a team. A background in computer science and preferably genetics is required as well as some experience with statistical techniques and machine learning techniques.

Organization

The department of Human Genetics is one of the largest departments in Europe performing both high quality research and patient care. The translational genomics group of Prof. Veltman consists of about 20 people with a background in genetics and bioinformatics and applies novel genomic technologies for basic research as well as patient care. We regularly publish in high-ranking journals.

Comments and contact information

Include your curriculum vitae, description of research experience and names and addresses of 2 references in your application.

For more information you can contact Dr. Christian Gilissen, Αυτή η διεύθυνση Email προστατεύεται από τους αυτοματισμούς αποστολέων ανεπιθύμητων μηνυμάτων. Χρειάζεται να ενεργοποιήσετε τη JavaScript για να μπορέσετε να τη δείτε., +31 (0)24 36 68940 or Prof Dr. Ir. Joris Veltman, Αυτή η διεύθυνση Email προστατεύεται από τους αυτοματισμούς αποστολέων ανεπιθύμητων μηνυμάτων. Χρειάζεται να ενεργοποιήσετε τη JavaScript για να μπορέσετε να τη δείτε., +31 (0)24 36 14741. (Use these E-mail addresses only for information. For application use the Apply button)

Application deadline is 10 October 2013.