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Currently, pregnant couples that carry a severe genetic disease (e.g. cystic fibrosis, thalassemia, Duchenne, etc.) need to undergo invasive amniocentesis or chorionic villus sampling to determine if their child inherited their genetic abnormality. Such invasive procedures are perceived as burdensome, also because they carry a procedure-related small risk of miscarriage. In collaboration with biotech company Cergentis, the UMC Utrecht and various other Dutch academic medical centers, we recently introduced an alternative to these common invasive practices and showed a proof of principle for a novel Non-Invasive Prenatal Diagnosis test (NIPD, Vermeulen et al., AJHG 2017) that requires a simple non-invasive blood test to perform aforementioned genetic tests. In this project we will further optimize this method and will focus on the statistical and computational aspect of this innovative method to deliver a robust framework that ultimately facilitates its implementation in routine diagnostics across medical centers in the Netherlands.
Through this project you may participate in other cutting-edge research in Biomedical genomics department of the Hubrecht institute that aims to increase our understanding of human genetics through development of novel genomic technologies.
We are looking for a statistician with experience in programing/scripting languages or otherwise a programmer with strong background in statistics. In particular, we seek a candidate with:
Salary: According to “CAO-Nederlandse Universiteiten” (CAO-NU), depending on experience, excluding 8% holiday allowance and an 8.3% year-end bonus. We offer an extensive package of fringe benefits.
Duration: one year, with the possibility to extend for one more year.
Starting date: October 2020, or as soon as possible.
The Hubrecht Institute is a research institute focusing on developmental and stem cell biology. It encompasses 24 research groups that perform fundamental and multidisciplinary research, both in healthy systems and disease models. The Hubrecht Institute is a research institute of the Royal Netherlands Academy of Arts and Sciences (KNAW)., located on the Utrecht Science Park ‘De Uithof’. Since 2008, the institute has been affiliated with the University Medical Center Utrecht, advancing the translation of research into clinical practice. The Hubrecht Institute has a partnership with the European Molecular Biology Laboratory (EMBL).
Royal Netherlands Academy of Arts and Sciences (KNAW)
Uppsalalaan 8, 3584 CT, Utrecht
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