This year's C.C. Li Lecture has been canceled.
Statistics and Genetics Offer a Window into Autism
Recently the largest exome sequencing study to date of autism spectrum disorder (ASD) implicated 102 genes in risk. This risk gene set serves as a springboard for additional explorations into the etiological pathways of ASD. Quantification of gene expression, either with single-cell or bulk RNA-seq of brain tissues, can be a critical step in such investigations, but each technology brings challenges. We address these challenges with novel statistical tools. For single-cell RNA-seq, scientists struggle to determine the appropriate number of cell types and subtypes when clustering the cells. We circumvent this difficulty by constructing a coherent hierarchical tree of cell types. Due to the sparsity of counts, it is challenging to construct single-cell gene-gene co-expression networks. We skirt this challenge by constructing meta-cell specific networks using nonparametric methods. While there are many strengths to single-cell expression, the data are usually obtained from a small number of samples and it tends to be noisy. To obtain more insightful analyses of bulk RNA-seq data we use two new tools, penMarker and MIND, to estimate subject and cell-type-specific gene expression. From this inferred expression we estimate gene co-expression networks in specific brain cell types, which are then interpreted in light of genetic findings in autism spectrum disorder (ASD). Together, these methods and results can broaden our understanding of the neurobiology of ASD.
Kathryn Roeder is the UPMC Professor of Statistics and Life Sciences in the Departments of Statistics and Data Science and Computational Biology. Dr. Roeder has developed statistical and machine learning methods in a wide spectrum of areas, including high dimensional data problems in genetics. Her work focuses on statistical methods to reveal the genetic basis of complex disease. She is one of the leaders of the Autism Sequencing Consortium, an international organization dedicated to discovering the genetic etiology of autism. In 1997, she received the COPSS Presidents’ Award, as well as the COPSS Snedecor Award for outstanding work in statistical applications. In 2019, she was elected to the National Academy of Sciences.
View past C. C. Li lectures
The C.C. Li Lecture was established in 2004 in honor of former faculty member Ching Chun "C.C." Li.