Yi-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
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.
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.
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.
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.
Center for Human Genetics
DUMC Box 2468
Durham, NC 27701
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