
Ani W. Manichaikul
· Professor of Statistical Genetics, Genetic Epidemiology, Biostatistics, Network analysisUniversity of Virginia · Biochemistry and Molecular Genetics
Active 2001–2025
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About
Ani W. Manichaikul is an Associate Professor in the Department of Genome Sciences at the University of Virginia School of Medicine. She holds a PhD from Johns Hopkins University. Her research focuses on statistical genetics and genetic epidemiology, with particular emphasis on the analysis of genome-wide association studies in multi-ethnic cohort studies, gene-based analysis of rare variants, quantitative trait mapping in experimental crosses, and translational research bridging mouse and human studies. She is actively involved in genome-wide association analysis of cardiovascular and pulmonary phenotypes through the Multi-Ethnic Study of Atherosclerosis (MESA). Her work includes post-GWAS research such as gene-environment interaction studies, fine mapping, and candidate gene investigations conducted in collaboration with experts in animal models and in vitro studies of genetic pathways. Additionally, she works on integrative 'omics' approaches, combining genomic, transcriptomic, proteomic, and other high-dimensional data sets from projects like NHLBI TOPMed and GTEx to identify causal genes and pathways influencing diseases.
Research topics
- Biology
- Genetics
- Evolutionary biology
- Computational biology
- Medicine
- Environmental health
- Bioinformatics
- Computer Science
- Demography
- Internal medicine
Selected publications
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Nature · 2021 · 2261 citations
. In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These…
The power of genetic diversity in genome-wide association studies of lipids
Nature · 2021 · 1032 citations
A saturated map of common genetic variants associated with human height
Nature · 2022 · 877 citations
) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10-20% (14-24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than a…
The Polygenic and Monogenic Basis of Blood Traits and Diseases
Cell · 2020 · 731 citations
Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis…
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Nature · 2020 · 726 citations
Recent grants
Genomic and Transcriptomic Analysis of Emphysema and Subclinical ILD
NIH · $2.0M · 2016–2023
Frequent coauthors
- 1568 shared
Philip St. John
University of Manitoba
- 1477 shared
Natalia S. Rost
Massachusetts General Hospital
- 1473 shared
Hugh S. Markus
University of Cambridge
- 935 shared
Danish Saleheen
- 905 shared
Jing Liu
Central South University
- 842 shared
Philippe Amouyel
Université de Lille
- 840 shared
Vincent Thijs
University of Melbourne
- 835 shared
Stéphanie Debette
Université de Bordeaux
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