Genome-wide association, phenotype prediction, and population structure: a review and some open problems

Abstract:

I will give a broad overview of human genetic variation, polygenic traits, association studies, heritability estimation and risk prediction. I will focus on the dual correlation structures of linkage disequilibrium and population structure, discussing how these both confound and enable the various analyses we perform. I will highlight an important open problem on the failure of polygenic risk prediction to generalize across diverse ancestries.

Biography:

Alex Bloemendal is a computational scientist at the Broad Institute of MIT and Harvard and at the Analytic and Translational Genetics Unit of Massachusetts General Hospital. As a member of Broad institute member Ben Neale’s lab, Bloemendal leads a group in developing new methods to analyze genetic data, harnessing its unprecedented scope and scale to discover the genetic causes of disease. He also co-founded and directs the Models, Inference & Algorithms initiative at the Broad, bridging computational biology, mathematical theory, and machine learning. Bloemendal is an institute scientist at the Broad.

Bloemendal was previously a research scientist in the Program for Evolutionary Dynamics and a Simons Fellow in the Department of Mathematics at Harvard University. His research in probability theory and random matrices focused on questions of signal and noise in high-dimensional data; he proved an open conjecture with wide-reaching applications for fields including population genetics. He also earned a teaching award for an advanced course on probability.

Bloemendal received an Hon. B.Sc., M.Sc., and Ph.D. in mathematics from the University of Toronto.