Yuk Yee Leung

About

Yuk Yee Leung, PhD, is a Research Assistant Professor of Pathology and Laboratory Medicine at the University of Pennsylvania's Perelman School of Medicine. His research focuses on the genetics and genomics of Alzheimer's disease and other neurodegenerative diseases, with particular expertise in non-coding variants, small RNA biomarkers, and translational bioinformatics. Dr. Leung's work involves the discovery of biomarkers, machine learning applications, and the exploration of molecular mechanisms underlying neurodegeneration. He holds a BEng in Medical Engineering and a PhD in Electrical and Electronic Engineering (Bioinformatics) from the University of Hong Kong. His contributions include developing genomic variant calling pipelines, creating databases of genetic findings for Alzheimer's disease, and advancing functional genomics data integration. Dr. Leung has authored numerous publications in high-impact journals, contributing significantly to the understanding of Alzheimer's disease genetics and bioinformatics.

Research topics

• Biology
• Medicine
• Genetics
• Gerontology
• Bioinformatics
• Internal medicine
• Neuroscience
• Psychiatry
• Psychology
• Pathology

Selected publications

• New insights into the genetic etiology of Alzheimer’s disease and related dementias

  Nature Genetics · 2022 · 2403 citations

  Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted mi…

  DOI

• Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

  Nature Communications · 2020 · 484 citations

  Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer's dementia, while the APOE2 allele is associated with a lower risk of Alzheimer's dementia, it is not yet known whether APOE2 homozygotes have a particularly low risk. We generated Alzheimer's dementia odds ratios and other findings in more than 5,000 clinically characterized and neuropathologically characterized Alzheimer's dementia cases and controls. APOE2/2 was associated with a low Alz…

  PublisherOA PDFDOI

• 50,000 years of evolutionary history of India: Impact on health and disease variation

  Cell · 2025-06-01 · 31 citations

  articleOpen access

  India has been underrepresented in genomic surveys. We generated whole-genome sequences from 2,762 individuals in India, capturing the genetic diversity across most geographic regions, linguistic groups, and historically underrepresented communities. We find most Indians harbor ancestry primarily from three ancestral groups: South Asian hunter-gatherers, Eurasian Steppe pastoralists, and Neolithic farmers related to Iranian and Central Asian cultures. The extensive homozygosity and identity-by-d…

  PublisherOA PDFDOI

• Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset

  Alzheimer s & Dementia · 2025-05-01 · 19 citations

  articleOpen access1st authorCorresponding

  INTRODUCTION: The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer's disease and related dementias (ADRD) by integrating whole genome sequencing (WGS) with other genetic, phenotypic, and harmonized datasets from diverse populations. METHODS: The Genome Center for Alzheimer's Disease (GCAD) uniformly processed WGS from 36,361 ADSP samples, including 35,014 genetically unique participants of which 45% are from non-European a…

  PublisherOA PDFDOI

• Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer’s disease

  Genome biology · 2025-07-17 · 12 citations

  reviewOpen access

  BACKGROUND: Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in ancestry groups of predominantly non-European ancestral background in genome-wide association studies (GWAS). We construct and analyze a multi-ancestry GWAS dataset in the Alzheimer's Disease Genetics Consortium (ADGC) to test for novel shared and population-specific late-onset Alzheimer's disease (LOAD) susceptibility loci and evaluate underlying genetic architecture in 37,382 non-Hispanic…

  PublisherOA PDFDOI

Frequent coauthors

• Li‐San Wang

  University of Pennsylvania

  105 shared

• Otto Valladares

  74 shared

• Adam C. Naj

  72 shared

• Gerard D. Schellenberg

  Computational Physics (United States)

  66 shared

• Margaret A. Pericak‐Vance

  Dr. John T. Macdonald Foundation

  61 shared

• Eden R. Martin

  University of Miami

  61 shared

• Jonathan L. Haines

  Case Western Reserve University

  57 shared

• Brian W. Kunkle

  University of Miami

  57 shared

Labs

• Pathology and Laboratory MedicinePI

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