Trainee Author: David Soave, MSc
University of Toronto
Hospital for Sick Children
This paper was chosen as a feature highlight because it makes an important contribution to human genetics methods by describing a joint location-scale (JLS) association testing framework for the detection of single variant, gene-set, or pathway association with the presence of gene-gene or gene-environment interactions. The manuscript uses cystic fibrosis cohorts to identify novel complex contributing to CF diseases that was missed in previous analysis. This method could be employed on previous association studies for missed interactions. This study illustrates the rapidly evolving methodology available for detecting interactions in large datasets.
Training and Development Committee: Could you describe your research for us?
Mr. Soave: My research is focused on developing more powerful statistical methods for genetic analysis of complex human traits. As a member of the Genetics and Genome Biology program at the Hospital for Sick Children, Toronto, I am using these methods to inform our understanding of the complex genetic model for disease severity in Cystic Fibrosis.
TDC: What are your career goals?
Mr. Soave: In the immediate future, I am interested in obtaining a post-doctoral research position in statistical genetics after I defend my doctoral dissertation in 2016. My long-term career goal is to hold a position as university professor working in either a Biostatistics or Statistics department, simultaneously contributing to statistical methodology and our understanding of human disease.
TDC: Why did you choose genetics as your field of study?
Mr. Soave: I have always been interested in child health, and genetic disease is a major cause of childhood mortality and morbidity. The University of Toronto’s Strategic Training for Advanced Genetic Epidemiology (STAGE) training program offered me a unique interdisciplinary training experience, with cross-disciplinary mentors in genetics, statistics, and epidemiology, appointed at both hospital-based research institutes (in my case the Hospital for Sick Children) and the University of Toronto. The training opportunity paired with my interest in child health, steered me towards a career in the field of genetics.
TDC: Describe yourself in three words.
Mr. Soave: Creative; Inquisitive; Communicative
The Trainee Paper Spotlight is a monthly feature highlighting outstanding papers written by trainee members of ASHG.