At Variant Bio I lead the Genomic Discovery Team, which translates health and multi-omics data from studies into novel therapeutic hypotheses.

The vast majority of the human genome is non-coding, and most genome wide association studies (GWAS) have implicated non-coding variants. Methods that integrate the genome and trancsriptome at population scale, such as expression quantitative trait loci (eQTL) and allele specific expression (ASE) studies, have revealed that many non-coding variants affect the expression of nearby genes, providing a potential molecular mechanism underlying their trait association. I have made methodological contributions to both fields and have used these methods to better understand the effects of genetic variation on gene expression, and their contribution to disease. I am a key member of the Analysis Working Group in the Genotype Tissue Expression (GTEx) project, the largest eQTL study to date. In this project, I am responsible for generation and analysis of ASE data, and have performed extensive analyses of eQTL results. This has resulted in a co-lead analyst position on the main GTEx v6 release paper, which was published in Nature. Moving forward, for the final GTEx release I am leading a subgroup aimed at identifying the molecular mechanisms of QTL tissue specificity and am part of the final paper writing group. My most recently published research in Nature Genetics describes how regulatory variation can modify the penetrance of pathogenic coding variants, which we demonstrated using population scale functional genomic data, disease cohorts, and CRISPR-Cas9 experimental validation.

Lappalainen LabDepartment of Systems Biology

Robert Martienssen is a world leader in the field of small RNA silencing and epigenetics. His research group studies a variety of organisms, ranging from economically important Maize (corn) to single celled fission yeast. As a graduate student in Rob’s lab I described a role for small RNA pathways, which classically silence DNA, in maintaining genome stability. When genome stability is compromised there are negative consequences for the cell, which can include cancer in higher organisms.My work in Rob’s lab integrated both high-throughput genomic, and molecular biology experiments. The culmination of my thesis, “Dicer promotes transcription termination at sites of replication stress to maintain genome stability”, involved the analysis of a wide breath of genomic data sets (ChIP-seq, RNA-seq, sRNA-seq) to uncover a novel molecular function for a core component of the RNAi machinery. I performed all analysis for this work personally, and continue to perform analysis for many other members of the lab through ongoing collaborations.

Fiix Software provides a cloud based computerized maintenance management system (CMMS) for mid to large size enterprises. At its core, a CMMS tracks and schedules maintenance performed on equipment, inventory usage, and personnel time. Fiix has revolutionized the CMMS through ease of use, powerful data analytics, and deployment on mobile platforms. As a co-founder, I was involved with the company through its inception, angel financing, and as an early stage startup. During my time as the Chief Technology Officer I was responsible for designing and developing our core software platform. As Chief Information Officer, I was a driving force behind an analytics-based redesign of our product, and transition to a software as a service (SaaS) cloud-based model. Fiix, which is based out of Toronto, has 170 employees and recently completed a $40 million series C funding round to support further expansion.