PhD Student

Job description

Long-Read Sequencing for the detection of cryptic Structural Variation in patients with intellectual disability and congenital anomalies

The Genome Research group at the Center for Medical Genetics has a longstanding expertise in the introduction of new technologies in the elucidation of genomic defects in children with congenital anomalies. Our research group is currently implementing third generation sequencing (long-read sequencing) for the detection of hidden structural variations in the genome of these patients, and we are looking for a talented and highly motivated PhD student to enforce our team.

We offer an open, highly dynamic, and challenging working environment, in which teamwork, initiative and originality are stimulated and appreciated.
Tasks:
o Experimental Design and Execution:
Implement long-read sequencing protocols using PromethION and Revio platforms.
Prepare and process genomic DNA samples for sequencing.
o Data Analysis:
Analyze long-read sequencing data to identify structural variations, including deletions, duplications, inversions, and translocations.
Develop methods for tandem repeat detection and characterization.
Investigate epigenetic signatures associated with specific genomic regions.

Job profile

Qualifications:

• Strong interest in genome research and next-generation sequencing technologies.
• Experience with long-read sequencing platforms (PromethION, Revio) is advantageous.

Bioinformatics Skills:

• Proficiency in Python and R for data analysis, visualization, and statistical modeling.
• Experience with bioinformatics tools commonly used in genome research (e.g., SAMtools, BCFtools, BEDtools, GATK, Dorado, Minimap2, etc.).
• Ability to work with large-scale genomic datasets and perform variant calling.
• You take initiative, have a critical mindset, strive to work independently and are highly motivated.
• Excellent written and oral communication skills
• Collaborate with other researchers, bioinformaticians, and clinicians within the hospital.
• Participate in lab meetings, seminars, and scientific discussions.
• Fluency in English (both written and spoken).
• Candidates who are eligible to submit a PhD research project to other funding agencies, will be considered as an advantage.
  
  

What we can offer

• We offer a full-time position as a doctoral fellow, consisting of an initial period of 12 months, which will be extended (after a positive evaluation), to a total maximum of 48 months.
• Your contract will start on 06/01/2024 at the earliest.
• The fellowship amount is 100% of the net salary of an AAP member in equal family circumstances. The individual fellowship amount is determined by the Department of Personnel and Organization based on family status and seniority. A grant that meets the conditions and criteria of the regulations for doctoral fellowships is considered free of personal income tax. Click here for more information about our salary scales
• All Ghent University staff members enjoy a number of benefits, such as a wide range of training and education opportunities, 36 days of holiday leave (on an annual basis for a full-time job) supplemented by annual fixed bridge days, bicycle allowance and eco vouchers. Click here for a complete overview of all the staff benefits (in Dutch).

How to apply

• Applications should be submitted by June 1, 2024.
• Send a motivation letter and curriculum vitae with detailed study results (per year) to Prof. Dr. Björn Menten (Email: Bjorn.Menten@UGent.be)
  
  
• Please also include extracurricular activities and the contact information of two references.