Welcome to the Pemberton Lab...

Publication in Bioinformatics

We have published a software tool called GARLIC for calling and classifying runs of homozygosity (ROH) in genome-wide SNP genotype data in the popular TPED/TFAM format based upon the methods of Pemberton et al. (2012). This software will facilitate the accurate inference and classification of ROH in large-scale genotype data sets created by furture population- and disease-genetic studies.

CHRIM Operating Grant

We have been awarded a 1-year Children's Hospital Research Institute of Manitoba (CHRIM) Operating Grant to identify an apparent modifier gene for polycystic kidney disease in the Han:SPRD-Cy rat model. In this study, we will use next-generation DNA and RNA sequencing approaches to identify the modifier gene as a first step toward developing improved treatment stratagies.

Cameroonian Field Mission

We have just returned from a successful month-long field mission in Cameroon to collect new samples for our exploration of the genetics of body size among West Central African Pygmies and their non-Pygmy neighbours. We collected DNA and trait data on 386 individuals that will greatly enhance our explorations of genetic and phenotypic diversity among West Central African Pygmies and their non-Pygmy neighbours.

NSERC PhD Studentship Award

Congratulations to PhD Student Sasha Blant, who has been awarded a three-year Natural Sciences and Engineering Research Council of Canada (NSERC) Postgraduate Scholarship (Doctoral) to continue her exploration of genetic and phenotypic variation among West Central African Pygmies and their non-Pygmy neighbours.

About the Lab

Research in the lab is focused on understanding the genetic etiology of Mendelian and complex traits, how human population history and cultural practices influence patterns of genetic variation, and the ways in which these patterns can be harnessed to advance the discovery of genes that underlie human disease. We are more broadly interested in understanding how the geographic distribution of human genetic variation relates to the susceptibility of different populations to disease, and ultimately how this variation in disease susceptibility reflects the evolutionary history of human populations. Our efforts will provide a foundation for the development of diagnostic and therapeutic strategies that will help reduce the disease-burden of diverse populations.

Current Research Projects

Phenotype Mapping

The identification of novel genes and genetic variants underlying Mendelian and complex phenotypes is a necessary step in furthering our understanding of their underlying processes and human development. For disease phenotypes, such an understanding is a fundamental step toward developing novel diagnostic and therapeutic strategies to help reduce the disease-burden of diverse populations.

Cystic Kidney Disease

The identification and characterization of a novel modifier gene of polycystic kidney disease in the Han:SPRD-Cy rat model. Our findings will form the foundation for the development of better treatments that can reduce patient suffering and the burden polycystic kidney disease places on healthcare and transplant systems worldwide.

Genomic Homozygosity

Genome-wide patterns of runs of homozygosity and their variation across individuals can provide a rich source of data for uncovering patterns of diversity, population structure, and history of human populations, and for facilitating the identification of genes underlying recessive traits via homozygosity mapping.

Genetics of Asian Indians

In India, centuries-old marriage customs have introduced extensive social structuring into the contemporary population, potentially with significant consequences for genetic variation. Understanding the genetic landscape in India is a necessary first step toward identifying the genetic factors that underlie diseases such as cardiovascular disease and diabetes that occur at high frequency in Asian Indians.

Genetics of African Pygmies

African Pygmies are hunter-gatherer populations from the equatorial rainforest that have the shortest average adult height among worldwide human populations. Investigating patterns of genetic variation in these populations will hopefully shed light on the biological basis and the putative adaptive role of the short stature of Pygmy populations, and increase our understanding of their unique evolutionary history.

Genetics of First Nations

The peopling history of the Americas remains the subject of numerous archaeological, paleo-anthropological, linguistic, and population genetics debates. Exploring the genetic diversity and evolutionary history of indigenous peoples of the Americas and investigating the patterns and history of admixture in these communities will help improve upon our current knowledge of the complex history of this continent.

Genetics of Cape Verde

Cape Verde is an archipelago consisting of nine inhabited islands located off the shores of Senegal whose contemporary populations reflect the diverse cultural and ethnic backgrounds of the original 15th century European and continental African settlers. Thus, the Cape Verde archipelago affords us an opportunity to jointly reconstruct the history of both language varieties and genetic diversity in an admixed population.


Department of Biochemistry and
Medical Genetics

University of Manitoba
Rm 309 - 745 Bannatyne Avenue
Winnipeg, MB, R3E 0J9
+1 204 789 3602Telephone (office):
+1 204 789 3524Telephone (lab):
+1 204 789 3900Fax: