
WILLIAM S. BUSH, PHD, MS
Associate Director for Bioinformatics Research
William S. Bush, PhD, MS, is Associate Professor in the Department of Population and Quantitative Health Sciences and the Cleveland Institute for Computational Biology at Case Western Reserve University. Dr. Bush received his PhD at Vanderbilt University in Human Genetics in 2008 and then continued as a post-doctoral fellow in the Neurogenomics Training Program at Vanderbilt. Dr. Bush was recently named a Mt. Sinai Health Care Foundation Scholar. As a human geneticist and bioinformatician, Dr. Bush’s research interests include understanding the functional impact of genetic variation, developing statistical and bioinformatics approaches for integrating functional genomics knowledge into genetic analysis, and the use of electronic medical records for translational research.
Featured Publications

Genetic analysis of biological pathway data through genomic randomization.
Yaspan BL, Bush WS, Torstenson ES, Ma D, Pericak-Vance MA, Ritchie MD, Sutcliffe JS, Haines JL,. Genome Wide Association Studies (GWAS) are a standard approach for large-scale common variation characterization and for identification of single loci predisposing to disease. However, due to issues of moderate sample sizes and particularly multiple testing correction, many variants of […]

Multivariate analysis of regulatory SNPs: empowering personal genomics by considering cis-epistasis and heterogeneity.
Turner SD, Bush WS,. Understanding how genetic variants impact the regulation and expression of genes is important for forging mechanistic links between variants and phenotypes in personal genomics studies. In this work, we investigate statistical interactions among variants that alter gene expression and identify 79 genes showing highly significant interaction effects consistent with genetic heterogeneity. […]

Genome simulation approaches for synthesizing in silico datasets for human genomics.
Ritchie MD, Bush WS,. Simulated data is a necessary first step in the evaluation of new analytic methods because in simulated data the true effects are known. To successfully develop novel statistical and computational methods for genetic analysis, it is vital to simulate datasets consisting of single nucleotide polymorphisms (SNPs) spread throughout the genome at […]

Evidence for polygenic susceptibility to multiple sclerosis–the shape of things to come.
, Bush WS, Sawcer SJ, de Jager PL, Oksenberg JR, McCauley JL, Pericak-Vance MA, Haines JL,. It is well established that the risk of developing multiple sclerosis is substantially increased in the relatives of affected individuals and that most of this increase is genetically determined. The observed pattern of familial recurrence risk has long suggested […]

Visualizing SNP statistics in the context of linkage disequilibrium using LD-Plus.
Bush WS, Dudek SM, Ritchie MD,. Often in human genetic analysis, multiple tables of single nucleotide polymorphism (SNP) statistics are shown alongside a Haploview style correlation plot. Readers are then asked to make inferences that incorporate knowledge across these multiple sets of results. To better facilitate a collective understanding of all available data, we developed […]
Recent Publications
- Bai, H, Zhang, X, Bush, WS. Pharmacogenomic and Statistical Analysis. Methods Mol Biol 2023; 2629 : 305-330. PubMed PMID:36929083 .
- Chen, F, Madduri, RK, Rodriguez, AA, Darst, BF, Chou, A, Sheng, X, Wang, A, Shen, J, Saunders, EJ, Rhie, SK et al.. Evidence of Novel Susceptibility Variants for Prostate Cancer and a Multiancestry Polygenic Risk Score Associated with Aggressive Disease in Men of African Ancestry. Eur Urol 2023; : . PubMed PMID:36872133 .
- Okwuegbuna, OK, Kaur, H, Jennifer, I, Bush, WS, Bharti, A, Umlauf, A, Ellis, RJ, Franklin, DR, Heaton, RK, McCutchan, JA et al.. Anemia and Erythrocyte Indices Are Associated With Neurocognitive Performance Across Multiple Ability Domains in Adults With HIV. J Acquir Immune Defic Syndr 2023; 92 (5): 414-421. PubMed PMID:36580636 PubMed Central PMC10006328.
- Rajabli, F, Tosto, G, Hamilton-Nelson, KL, Kunkle, BW, Vardarajan, BN, Naj, A, Whitehead, PG, Gardner, OK, Bush, WS, Sariya, S et al.. Admixture mapping identifies novel Alzheimer's disease risk regions in African Americans. Alzheimers Dement 2022; : . PubMed PMID:36539198 .
- Liu, S, Bush, WS, Miskimen, K, Gonzalez-Vicente, A, Bailey, JNC, Konidari, I, McCauley, JL, Sedor, JR, O'Toole, JF, Crawford, DC et al.. T-cell receptor diversity in minimal change disease in the NEPTUNE study. Pediatr Nephrol 2023; 38 (4): 1115-1126. PubMed PMID:35943576 .
- Eissman, JM, Dumitrescu, L, Mahoney, ER, Smith, AN, Mukherjee, S, Lee, ML, Scollard, P, Choi, SE, Bush, WS, Engelman, CD et al.. Sex differences in the genetic architecture of cognitive resilience to Alzheimer's disease. Brain 2022; 145 (7): 2541-2554. PubMed PMID:35552371 PubMed Central PMC9337804.
- Li, B, Jin, B, Capra, JA, Bush, WS. Integration of Protein Structure and Population-Scale DNA Sequence Data for Disease Gene Discovery and Variant Interpretation. Annu Rev Biomed Data Sci 2022; 5 : 141-161. PubMed PMID:35508071 .
- Gardner, OK, Van Booven, D, Wang, L, Gu, T, Hofmann, NK, Whitehead, PL, Nuytemans, K, Hamilton-Nelson, KL, Adams, LD, Starks, TD et al.. Genetic architecture of RNA editing regulation in Alzheimer's disease across diverse ancestral populations. Hum Mol Genet 2022; 31 (17): 2876-2886. PubMed PMID:35383839 PubMed Central PMC9433728.
- Bellenguez, C, Küçükali, F, Jansen, IE, Kleineidam, L, Moreno-Grau, S, Amin, N, Naj, AC, Campos-Martin, R, Grenier-Boley, B, Andrade, V et al.. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nat Genet 2022; 54 (4): 412-436. PubMed PMID:35379992 PubMed Central PMC9005347.
- Vardarajan, BN, Reyes-Dumeyer, D, Piriz, AL, Lantigua, RA, Medrano, M, Rivera, D, Jiménez-Velázquez, IZ, Martin, E, Pericak-Vance, MA, Bush, W et al.. Progranulin mutations in clinical and neuropathological Alzheimer's disease. Alzheimers Dement 2022; 18 (12): 2458-2467. PubMed PMID:35258170 PubMed Central PMC9360185.