NIH: Office of Disease Prevention

Medicine: Mind the Gap

Using Networks to Link Genotype to Phenotype

John Quackenbush, Ph.D.

March 5, 2018
11:00 a.m.–12:00 noon ET

John Quackenbush, Ph.D. External Website Policy
Dana-Farber Cancer Institute
Harvard T.H. Chan School of Public Health


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About the Webinar

One of the central tenets of biology is that our genetics—our genotype—influences the physical characteristics we manifest—our phenotype. But with more than 25,000 human genes and more than 6,000,000 common genetic variants mapped in our genome, finding associations between our genotype and phenotype is an ongoing challenge. Indeed, genome-wide association studies have found thousands of small effect size genetic variants that are associated with phenotypic traits and disease. The simplest explanation is that these genetic variants work synergistically to help define phenotype and to regulate processes that are responsible for phenotypic state transitions.

We will use gene expression and genetic data to explore gene regulatory networks, to study phenotypic state transitions, and to analyze the connections between genotype, gene expression, and phenotype. We have found that the networks, and their structure, provide unique insight into how genetic elements interact with each other. We have also found that the structure of the network has predictive power for identifying single nucleotide polymorphisms (SNPs) likely to be associated with phenotype through genome-wide association studies.

In his presentation, Dr. Quackenbush will show multiple examples, drawing on his work in cancer, chronic obstructive pulmonary disease, and the analysis of data from 38 tissues provided by the Genotype-Tissue Expression (GTEx) project.

About John Quackenbush, Ph.D.

Dr. John Quackenbush is a Professor of Biostatistics and Computational Biology at the Dana-Farber Cancer Institute and a Professor of Computational Biology and Bioinformatics at the Harvard T.H. Chan School of Public Health. He has a Ph.D. in Theoretical Physics. In 1992 he received a fellowship from the National Institutes of Health to work on the Human Genome Project, which led him from the Salk Institute for Biological Studies to Stanford University and then to the Institute for Genomic Research (TIGR) before moving to Harvard in 2005. Dr. Quackenbush’s research uses massive data from DNA sequencing and other assays to model functional networks in human cells. By comparing networks between groups of individuals, he has found new drug targets, explored chemotherapy resistance, and investigated differences between the sexes. He has made pioneering discoveries about how the genetic variants work together to determine our traits. Dr. Quackenbush has published more than 250 papers, and his work has been cited more than 63,000 times. He has received numerous awards for his work, including recognition in 2013 as a White House Open Science Champion of Change.

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