Postdoctoral Researcher in Translational Bioinformatics

Do you want to contribute to top quality medical research?

The Department of Molecular Medicine

The Department of Molecular Medicine and Surgery (MMK) carries out both preclinical and clinical research within numerous fields. Linked to the department are approximately 450 researchers, postgraduate students, teachers and technical & administrative staff.

The rare diseases research group

There are approximately 8000 different rare diseases, affecting 6% or about 350 million people in the world. The quality of life of patients and families with rare diseases is often compromised by the lack of a correct molecular diagnosis, leading to risk of wrong diagnosis and inaccurate treatments. To ensure access to appropriate treatments and quality personalized health care, more information about the whole life perspective of the disease is needed.

The rare diseases group study rare diseases both clinically and at the molecular level to improve genetic diagnostics, increase knowledge about genotype-phenotype correlations and understand disease biology. The long-term goal is to identify biomarkers and to develop personalized therapeutics in order to improve the quality of life for individuals with rare diseases.

For more information, please visit: https://ki.se/en/mmk/rare-diseases

The Stockholm clinical genomics community

One important foundation for improved precision medicine is the development of new techniques for broad gene analysis and result interpretation. The genomics community in Stockholm includes both healthcare and academia, allowing for rapid implementation of novel technologies.

Today, whole genome sequencing is performed routinely by multiple departments at the Karolinska hospital, including the clinical genetics department and the center for congenital metabolic diseases, totalling over 20 000 clinical whole genomes.

The majority of WGS is performed at Scilifelab Solna, using the NovaSeq X system. In addition, we have access to the long read platforms PacBio Revio and Oxford Nanopore PromethIon. The WGS is performed by two facilities: the national genomics infrastructure (NGI), and clinical genomics. The clinical genomics facility utilizes the most recent computational technology, including the Dragen FPGA, as well as a GPU accelerated compute nodes.

The postdoc project

Hematological malignancies remain a significant cause of morbidity and mortality worldwide. A major pathological feature of these cancers is the presence of structural variants, such as deletions, duplications, translocations and inversions, which can lead to the activation of oncogenes or the inactivation of tumor suppressor genes. These genomic alterations are complex and varied, with multiple molecular mechanisms contributing to their formation, evolution, and impact on disease progression. In addition to primary structural changes, hematological cancers often exhibit secondary genomic events that contribute to disease complexity and therapeutic resistance. These include additional mutations that can affect disease outcome and patient survival.

The goal of this postdoc project is to elucidate the detailed mechanisms of structural variant formation and evolution in hematological malignancies. By integrating cutting-edge genomic sequencing and bioinformatics tools, we aim to map these variants more precisely and understand their exact structure and mechanisms of formation and role in cancer biology.

This knowledge is crucial for developing targeted therapies that can more effectively treat these malignancies and improve patient outcomes. The successful candidate will obtain a deep understanding in genomics, hematological malignancies, bioinformatics, and software development. The postdoc is required to work in a translational and international environment and is expected to take a strong lead in project design, management, and interpretation.

Your mission

You will analyze a complex dataset consisting of multiomics data such as whole genome sequencing, Optical Genomic Mapping, as well as Hi-C and transcriptome sequencing. You will use these datasets to detect chromosomal abnormalities and study their breakpoints. Using statistical methods and machine learning, we will explore how these structural variants arise and which recurring structures are formed.

You are expected to actively contribute to the planning and design of the research project and participate in teaching.

If you want to join the fight against cancer and drive cutting-edge research at the frontier between deep learning and genomics, we encourage you to apply for this position.

Your profile

To be eligible for employment as a postdoctor, a PhD or a foreign degree deemed to be equivalent to a Swedish PhD is required. This eligibility requirement must be fulfilled at the latest at the time of the employment decision. Completion of your doctoral degree within the last three years is considered an advantage. If there are special reasons, your degree may have been completed earlier.

Qualifications

To be eligible for employment as a postdoctoral researcher, applicants must hold (or be close to completing) a PhD in Computer Science, Bioinformatics, computational biology or a foreign degree deemed to be equivalent to a doctoral degree with strong background in bioinformatics, deep learning methodologies, and computer programing. The successful applicant should have excellent interpersonal communication and teamwork skills (written and verbal English) as well as good data management and documentation skills. We are seeking a new group member with a broad range of interests and expertise in the following key areas:

Necessary skills and personal qualities

Prior work in cancer research or clinical genetics is an asset.
Expertise in bioinformatic research as well as experience with whole genome sequencing data analysis, programming (Python, R), deep learning frameworks (e.g., TensorFlow, PyTorch), and statistical methods is expected.
Knowledge of topics such as cytogenetic, genome architecture and population genetics.

What do we offer?

A creative and inspiring environment with wide-ranging expertise and interests. Karolinska Institutet is one of the world's leading medical universities. At Karolinska Institutet, we conduct successful medical research and hold the largest range of medical education in Sweden. At KI, you get to meet researchers working with a wide range of specialisms and methods, giving you ample opportunity to exchange knowledge and experience with the various scientific fields within medicine and health. It is the crossover collaborations, which have pushed KI to where it is today, at the forefront of global research. Several of the people you meet in healthcare are educated at KI. A close relationship with the health care providers is important for creating groundbreaking top quality education and research. Karolinska Institutet is also a state university, which entitles you to several benefits through our collective agreement.

Location: Solna

https://ki.se/en/research/research-areas-centres-and-networks/research-groups/rare-diseases-ann-nordgren-och-anna-lindstrands-research-group

Choose to work at KI – Ten reasons why

Application

An employment application must contain the following documents in English or Swedish:

PhD certificate
A complete resumé, including date of the thesis defence, title of the thesis, previous academic positions, academic title, current position, academic distinctions, and committee work
A complete list of publications
A summary of current work (no more than one page)

Welcome to apply at the latest 2025-03-31

The application is to be submitted through the Varbi recruitment system.

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