Duke Center for Human Genetics Duke University Medical CenterDuke University

   About Us   |   Education/Learning   |   Research/Services   |   Studies/Participation   |   News



Allison Ashley-Koch, PhD

Simon G. Gregory, PhD

Elizabeth R. Hauser, PhD

Michael A. Hauser, PhD

Yi-Ju Li, PhD

Yutao Liu, PhD

Svati H. Shah, MD, MHS

Michelle P. Winn, MD

Contact Us

Core Faculty

Yi-Ju Li, PhDYi-Ju Li, PhD, is an Associate Professor in the Department of Biostatistics and Bioinformatics, and Center for Human Genetics, Department of Medicine. She is also a faculty member for the Biostatistics Core in the Duke Translational Medicine Institute (DTMI) and an Adjunct Assistant Professor in the Department of Statistics at North Carolina State University and Department of Epidemiology and Public Health, National University of Singapore. Dr. Li is a statistical geneticist, initially trained in population genetics and molecular evolution, who has built her research career in human genetics. Her primary research interest is in statistical method development and its applications for mapping quantitative trait loci. Dr. Li is a key investigator in genetic studies of neurodegenerative diseases, including Alzheimer's (AD) and Parkinson's (PD) disease, and eye disorders (myopia and Fuchs dystrophy). Her research has led to the reports of the first genomic screen for AAO and the first AAO gene (Glutathione-S-transferase Omega 1 or GSTO1) for AD and PD. Dr. Li and her group have developed a number of statistical methods for genetic data analysis, including the Genetic Association Tests based on Ranks (GATOR) for quantitative traits with and without censoring, a series of family-based association methods for X-linked genes, and methods for allelic and genotypic association tests for quantitative traits. Dr. Li has recently expanded her research to investigate copy number variants (CNVs) related to clinical phenotypes. She is currently leading a research project to investigate the role of CNV in myopia development using the genome wide association data from Singapore Cohort study Of the Risk factors for Myopia (SCORM). Dr. Li leads a team effort to establish cutting-edge computational tools and train staff for genetic data analysis.

Software developed by Dr. Li's group:

PhD, 1996, Statistics, North Carolina State University, Raleigh, NC

Selected Publications

Li Y-J, Scott WK, Hedges DJ, Zhang F, Caskell C, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Allen Jr FA,  Goets CG, Mastaglia F, Stajich JM, Gibson RA,  Middletown LT, Saunders AM, Scott BL, Small GW, Nicodemus KK, Reed AD, Schmechel DE,  Welsh-Bohmer KA, Conneally PM, Roses AD, Gilbert JR, Vance JM, Haines JL, Pericak-Vance MA. Age-at-Onset in two common neurodegenerative diseases is genetically controlled. American Journal of Human Genetics 70:985-993, 2002.

Li Y-J, Oliveira SA, Xu P, Martin ER, Stenger JE, Hulette C, Scherzer CR, Hauser MA, Scott WK, Small GW, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Goetz CG, Mastaglia F, Middleton LT, Roses AD, Saunders AM, Welsh-Bohmer KA, Schmechel DE, Gullans SR, Haines JL, Gilbert JR, Vance JM, Pericak-Vance MA. Glutathione S-Transferase modifies age-at-onset of Alzheimer Disease. Human Molecular Genetics 12(24):1-9, 2003.

Li Y-J, Hauser MA, Scott WK, Martin ER, Booze MW, Qin XJ, Walter JW, Nance MA, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Goetz CG, Small GW, Mastaglia F, Haines JL, Pericak-Vance MA, Vance JM. Apolipoprotein E controls the risk and age at onset of Parkinson Disease. Neurology 62(11):2005-2009, 2004.

Allen AS, Martin ER, Qin XJ, Li YJ. Genetic association tests based on ranks (GATOR) for quantitative traits with and without censoring.. Genetic Epidemiology 2006 Apr,30 (3): 248-258.

Li YJ, Xu P, Qin XJ, Schmechel DE, Hulette CM, Haines JL, Pericak-Vance MA, Gilbert JR. A comparative analysis of the information content in long and short SAGE libraries. BMC Bioinformatics 2006, 7: 504.

Li YW, Martin ER, Li YJ. EMK: A Novel Program for Family-Based Allelic and Genotypic Association Tests on Quantitative Traits. Annals of Human Genetics 72, (Pt 3): 388-396 [Epub 2008 Feb 26]

Afshari N, Li YJ, Pericak-Vance MA, Gregory S, Klintworth G. Genome-wide linkage scan in Fuchs Endothelial Corneal Dystrophy. Investigative Ophthalmology and Visual Science. 2009;50:1093-1097.

Beecham GW, Martin ER, Li YJ, Slifer MA, Gilbert JR, Haines JL, Pericak-Vance MA. Genome-wide Association Study Implicates a Chromosome 12 Risk Locus for Late-Onset Alzheimer Disease. American Journal of Human Genetics 84(1):35-43.

Zhang L, Martin ER, Morris RW, Li YJ. Association test for X-linked QTL in family-based designs. American Journal of Human Genetics (in press).

Li YJ, Guggenheim JA, Bulusu A, Metlapally R, Abbott D, Malecaze F, Calvas P, Rosenberg T, Paget S, Creer RC, Kirov G, Owen MJ, Zhao B, White T, Mackey DA, Young TL. An international collaborative family-based whole genome linkage scan for high-grade myopia. Investigative Ophthalmology and Visual Science 50(7):3116-27.

Contact at:
Yi-Ju Li
Center for Human Genetics
DUMC Box 2468
Durham, NC 27701
Phone: 1-919-684-0604
Fax: 1-919-684-0921
E-mail: yiju.li@duke.edu

// top //

Home | Contact Us | Employment | Giving | Site Map