Professor/associate professor II and senior researcher in machine learning for medical genetics (ref 260678)

We are looking for a researcher in machine learning with scientific interest and experience in medical genetics and/or precision medicine.
Diagnostic routines based on Next Generation DNA sequencing (NGS) are developing fast but are challenged by the deluge in data. There is a need to understand how predictive tools and prioritization algorithms can be effectively incorporated into data analysis work flows. Nowadays genetic diagnostic tests in patients with monogenic disorders use NGS-technologies for whole exome/genome sequencing (WES/WGS). These tests result in a molecular diagnosis in <50% of the patients, yielding a large number of variants of unknown significance underlining the strong need to improve the diagnostic offer for these patients.

Medical genetics is an exciting field experiencing a vivid scientific development, with implementation of new, groundbreaking technologies for exploring the patients’ genes as a basis for personalized medicine, also known as precision medicine. Department of Medical Genetics plays a central part in the Norwegian health care system. During the COVID pandemic we sequenced 80.000 covid genomes. Yearly, we generate around 5000 whole genome sequences as part of diagnosing patients with a wide array of hereditary diseases.

We want a motivated researcher across the field of machine learning and neighboring disciplines (data science, statistics, computational biology) to complement the Department’s research activities. An especially important task will be to facilitate integration of Artificial intelligence (AI) predictions with more clinical research applications, utilize and develop novel AI-based prediction tools for variant interpretation outside the known morbid genes and in ncDNA, and implement diagnostic pipelines to improve our locally produced advanced decision support software (ELLA, https://allel.es/). The holder of the position will also play an important part in strengthening the interdisciplinary collaboration with other groups and sections at the Department (group of digital solutions for medical genetics and Section for Laboratory Diagnostics.

For more information and how to apply: https://www.jobbnorge.no/en/available-jobs/job/260678/professor-associate-professor-ii-and-senior-researcher-in-machine-learning-for-medical-genetics