Research

Our lab uses computational and statistical methods to study human genetics and evolution. This work integrates diverse datasets and conceptual frameworks from complex trait genetics and evolutionary genomics to study human diversity.

Human Evolutionary Functional Genomics

Research over the last two decades has established that by consequence of ancient hybridization, modern human genomes possess small amounts of sequence that traces ancestry to Neanderthals and Denisovans. By studying patterns and functional impacts of gene flow among hominins, my research program seeks general insights into the genomic basis of phenotypic divergence. More generally, my lab uses humans as model to understand the genetic and functional genetic basis of phenotypic evolution.

See a video about our work on this topic here:

human karyotype

Embryonic Aneuploidy

Human reproduction is both inefficient and individually variable, despite its close link to fitness. Only approximately half of conceptions survive to term, mostly due to aneuploidy—the gain or loss of whole chromosomes. Working with collaborators from both academia and industry, we are investigating the molecular origins and functional consequences of such chromosome abnormalities. My past work on this topic demonstrated that in addition to aneuploidy arising during female meiosis, complex aneuploidies frequently occur during the initial embryonic mitoses, but are purged by selection around the time of embryonic genome activation. Some of these complex aneuploidies appear to arise by a mechanism of multipolar mitosis, in turn influenced by common maternal genetic variation at a quantitative trait locus spanning the centrosomal regulator PLK4. Building on these foundations, our current research is addressing the question of why certain chromosome abnormalities—including whole-chromosome aneuploidies, sub-chromosomal structural variants, and various mosaic forms—lead to preimplantation arrest, while others are tolerated or remain viable into late development.