BioSB Young Investigator Award 2016

 

The winner of this year's BioSB Young Investigator Award is: Sara Pulit, UMC Utrecht

The award session and honorary lecture are planned on April 19 from 15:30 - 16:00. 

Bio

I first experienced complex trait genetics research while spending a summer in Paul de Bakker's lab at Harvard Medical School in 2008. With the large-scale datasets, the interdisciplinary and collaborative teams, and the constantly developing analytic approaches, it was a field I found exciting and engaging. That summer turned into three more years in Boston, learning about genome-wide association studies, sequencing data, and bioinformatics tools that can help us discover loci associated to common disease in humans. I chose to pursue my PhD at the University Medical Center Utrecht (also in Paul's lab, as he had since moved), further working to understand how we can use genetic variation data and bioinformatics to understand the genetic underpinnings of common diseases including ischemic stroke and prolonged QT interval. After my PhD, I have remained in Utrecht, analysing whole-genome sequence data generated from thousands of ALS patients and controls. We plan on using approaches including single-variant and genic burden testing to discover genes that increase risk of disease and thus better understand the biological disease mechanisms of ALS.

Genome-wide significance, claims of association, and the big data era

Since the completion of the Human Genome Project, the field of human genetics has been in great flux, largely due to technological advances in mapping and studying DNA sequence variation. Genome-wide association studies (GWAS) in common disease, made possible by low-cost SNP array technology, have been hugely successful in identifying loci that confer disease risk. The bulk of these associations have proven robust and reproducible, in part because associations are only claimed if they achieve genome-wide significance. Currently, studies of human disease are rapidly shifting towards the use of sequencing technologies. As the cost of sequencing drops, assembling high-resolution genetic data in large samples drawn from global populations is becoming increasingly feasible. Genome-wide sequencing analyses are consequently performing many more independent statistical tests than was true in a common variant GWAS setting. We sought to determine genome-wide significance for various analysis scenarios by using whole-genome sequence data to simulate sequencing-based disease studies. We derive genome-wide significance for studies performed in varying sample sizes and ancestries. Because sequencing analysis brings with it many challenges, and because numerous additional factors contribute to weak claims of association made in the scientific literature, appropriate multiple test correction will be crucial to ensuring that claims of association made from sequencing studies will prove to be reproducible in the future.Since the completion of the Human Genome Project, the field of human genetics has been in great flux, largely due to technological advances in mapping and studying DNA sequence variation. Genome-wide association studies (GWAS) in common disease, made possible by low-cost SNP array technology, have been hugely successful in identifying loci that confer disease risk. The bulk of these associations have proven robust and reproducible, in part because associations are only claimed if they achieve genome-wide significance. Currently, studies of human disease are rapidly shifting towards the use of sequencing technologies. As the cost of sequencing drops, assembling high-resolution genetic data in large samples drawn from global populations is becoming increasingly feasible. Genome-wide sequencing analyses are consequently performing many more independent statistical tests than was true in a common variant GWAS setting. We sought to determine genome-wide significance for various analysis scenarios by using whole-genome sequence data to simulate sequencing-based disease studies. We derive genome-wide significance for studies performed in varying sample sizes and ancestries. Because sequencing analysis brings with it many challenges, and because numerous additional factors contribute to weak claims of association made in the scientific literature, appropriate multiple test correction will be crucial to ensuring that claims of association made from sequencing studies will prove to be reproducible in the future.

 

Keywords

Computational genetics and genomics, complex traits, common disease, genome-wide association studies, whole-genome sequencing, statistical models (linear models), simulation studies, big data, power.

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Selection procedure

During the BioSB 2016 on April 19, we will present the BioSB Young Investigator Award 2016. The award ceremony is planned on Day 1 of the conference (April 19th). The winner will receive a prize of 500 Euros sponsored by the BioSB research school and will present an honorary lecture.

Criteria

The candidate must have conducted his/her bioinformatics or systems biology research primarily in a Dutch institute. The primary result on which the award will be based will be the PhD thesis written by the candidate. Therefore, the final version of the thesis of the candidate should have been submitted to the PhD committee at the candidate's university on March 15, 2016 at the latest.

Other criteria that might be considered by the award committee are:

• The candidate significantly contributed to the idea of the research;
• The research of the candidate resulted in novel or improved bioinformatics or systems biology methodologies;
• The research of the candidate advanced life sciences research;
• The candidate independently conducted the research;
• The research resulted in a scientific publication, software application or database;
• The work of the candidate has given broad visibility of bioinformatics or systems biology in the life sciences field;
• The candidate has otherwise significantly contributed to bioinformatics/systems biology or the bioinformatics/systems biology community in the Netherlands.

Procedure

Each nomination must be accompanied with:

• Name and affiliation of candidate
• Motivation for nomination by group leader of candidate
• Curriculum Vitae of the candidate
• A URL to the final version of the PhD thesis (preferably to the PDF of the printed version)

You can join the competition by filling out the BioSB YIA submission form.

Submission deadline: March 15 , 2016 - CLOSED

Award committee

Each year the chair will leave the Award Committee after the conference and invite a new member to the committee. For 2016 the members of the committee are:

Prof. dr. Berend Snel, Utrecht University (Chair)
Dr. ir. Jeroen de Ridder, TU Delft
Prof. dr. Roeland Merks, Centrum Wiskunde & Informatica (CWI)
Dr. Christian Fleck, Wageningen UR

 

 

 

 

 

 

 

 

 

 

Mohammed El-Kebir, BioSB Young Investigator Award winner 2015