PhD position in Translational bioinformatics - Hiring in process/Finished, not possible to apply

Do you want to contribute to top quality medical research?

To be a doctoral student means to devote oneself to a research project under supervision of experienced researchers and following an individual study plan. For a doctoral degree, the equivalent of four years of full-time doctoral education is required.

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.

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 almost 5 000 clinical whole genomes.
The majority of WGS is performed at Scilifelab Solna, using the NovaSeq 6000 system. 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 doctoral student project and the duties of the doctoral student

The research project will focus on structural genomic variation in human genomes, ranging from single individuals to population scale. The PhD student will perform bioinformatic analyses including hybrid de novo assembly, haplotype assembly, and graph genome studies. These analyses will be based on cutting-edge genomic technologies, including long-read sequencing and optical mapping.
The successful candidate will obtain a deep understanding in genomics, bioinformatics, and software development. The PhD student is required to work in a translational and international environment and is expected to take a strong lead in project design, management, and interpretation.

What do we offer?

A creative and inspiring environment full of expertise and curiosity. Karolinska Institutet is one of the world's leading medical universities. Our vision is to pursue the development of knowledge about life and to promote a better health for all. At Karolinska Institutet, we conduct successful medical research and hold the largest range of medical education in Sweden. As a doctoral student you are offered an individual research project, a well-educated supervisor, a vast range of elective courses and the opportunity to work in a leading research group. Karolinska Institutet collaborates with prominent universities from all around the world, which ensures opportunities for international exchanges. You will be employed on a doctoral studentship which means that you receive a contractual salary. Employees also have access to our modern gym for free and receive reimbursements for medical care.

Eligibility requirements for doctoral education

In order to participate in the selection for a doctoral position, you must meet the following general (A) and specific (B) eligibility requirements at latest by the application deadline.

It is your responsibility to certify eligibility by following the instructions on the web page Entry requirements (eligibility) for doctoral education.

A) General eligibility requirement

You meet the general eligibility requirement for doctoral/third-cycle/PhD education if you:

1. have been awarded a second-cycle/advanced/master qualification (i.e. master degree), or
2. have satisfied the requirements for courses comprising at least 240 credits of which at least 60 credits were awarded in the advanced/second-cycle/master level, or
3. have acquired substantially equivalent knowledge in some other way in Sweden or abroad.*

Follow the instructions on the web page Entry requirements (eligibility) for doctoral education.

*If you claim equivalent knowledge, follow the instructions on the web page Assessing equivalent knowledge for general eligibility for doctoral education.

B) Specific eligibility requirement

You meet the specific eligibility requirement for doctoral/third-cycle/PhD education if you:

- Show proficiency in English equivalent to the course English B/English 6 at Swedish upper secondary school.

Follow the instructions on the web page English language requirements for doctoral education.

Verification of your documents Karolinska Institutet checks the authenticity of your documents. Karolinska Institutet reserves the right to revoke admission if supporting documents are discovered to be fraudulent. Submission of false documents is a violation of Swedish law and is considered grounds for legal action.

(A) and (B) can only be certified by the documentation requirement for doctoral education.

Skills and personal qualities

Necessary skills and personal qualities

• BSc in computer or natural sciences (molecular biology, physics, chemistry or similar)
• MSc in bioinformatics, engineering, computer science, biophysics or related field
• Strong interest in genetics and software development
• Experience in software development and algorithm design
• Experience in UNIX
• Proficiency in programming languages (C++, Rust, Nim, JAVA, Python or similar)
• Good communication skills, teamwork abilities, willingness to help PhD/master students
• Willingness to contribute to open and transparent science

Desirable skills and personal qualities

• Experience in machine learning
• Experience in next generation sequencing data analysis

Terms and conditions

The doctoral student will be employed on a doctoral studentship maximum 4 years full-time.

Application process

Submit your application and supporting documents through the Varbi recruitment system. Use the button in the top right corner and follow the instructions.

Your application must contain the following documents. We prefer that your application is written in English, but you can also apply in Swedish:

- A personal letter and a curriculum vitae
- Degree projects and previous publications, if any
- Any other documentation showing the desirable skills and personal qualities described above
- Documents certifying your general eligibility (see A above)
- Documents certifying your specific eligibility (see B above)

Selection

A selection will be made among eligible applicants on the basis of the ability to benefit from doctoral education. The qualifications of the applicants will be evaluated on an overall basis.

Karolinska Institutet uses the following bases of assessment:

- Documented subject knowledge of relevance to the area of research - Analytical skill - Other documented knowledge or experience that may be relevant to doctoral studies in the subject.

All applicants will be informed when the recruitment is completed.

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

Want to make a difference? Join us and contribute to better health for all