Jonathan Haines, Ph.D., is a genetic epi­demi­ol­o­gist, Mary W. Shel­don M.D. Pro­fes­sor of Genomic Sci­ences, Chair of Depart­ment of Epi­demi­ol­ogy & Bio­sta­tis­tics, and Direc­tor of the Insti­tute for Com­pu­ta­tional Biol­ogy. Dr. Haines has exten­sive expe­ri­ence in all aspects of genetic epi­demi­ol­ogy with a par­tic­u­lar focus on data ana­lyt­ics. He has applied his exper­tise to numer­ous neu­ro­log­i­cal and oph­thal­mo­log­i­cal dis­or­ders hav­ing located and iden­ti­fied over 20 causal and 200 asso­ci­ated loci. His inter­ests are in adapt­ing and apply­ing sta­tis­ti­cal com­pu­ta­tional meth­ods to bio­med­ical big data.



Recent Publications

  1. Rehker, J, Rodhe, J, Nesbitt, RR, Boyle, EA, Martin, BK, Lord, J, Karaca, I, Naj, A, Jessen, F, Helisalmi, S et al.. Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants. PLoS ONE 2017; 12 (10): e0185777. PubMed PMID:28985224 .
  2. Haines, JL, Sheffield, VC. The molecular genetics of eye diseases. Hum. Mol. Genet. 2017; 26 (R1): R1. PubMed PMID:28854578 .
  3. Persad, PJ, Heid, IM, Weeks, DE, Baird, PN, de Jong, EK, Haines, JL, Pericak-Vance, MA, Scott, WK, for the International Age-Related Macular Degeneration Genomics Consortium (IAMDGC). Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1. Invest. Ophthalmol. Vis. Sci. 2017; 58 (10): 4027-4038. PubMed PMID:28813576 PubMed Central PMC5559178.
  4. Kunkle, BW, Vardarajan, BN, Naj, AC, Whitehead, PL, Rolati, S, Slifer, S, Carney, RM, Cuccaro, ML, Vance, JM, Gilbert, JR et al.. Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport. JAMA Neurol 2017; 74 (9): 1113-1122. PubMed PMID:28738127 .
  5. Hou, L, Kember, RL, Roach, JC, O'Connell, JR, Craig, DW, Bucan, M, Scott, WK, Pericak-Vance, M, Haines, JL, Crawford, MH et al.. A population-specific reference panel empowers genetic studies of Anabaptist populations. Sci Rep 2017; 7 (1): 6079. PubMed PMID:28729679 PubMed Central PMC5519631.
  6. Sims, R, van der Lee, SJ, Naj, AC, Bellenguez, C, Badarinarayan, N, Jakobsdottir, J, Kunkle, BW, Boland, A, Raybould, R, Bis, JC et al.. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat. Genet. 2017; 49 (9): 1373-1384. PubMed PMID:28714976 .
  7. Huang, KL, Marcora, E, Pimenova, AA, Di Narzo, AF, Kapoor, M, Jin, SC, Harari, O, Bertelsen, S, Fairfax, BP, Czajkowski, J et al.. A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease. Nat. Neurosci. 2017; 20 (8): 1052-1061. PubMed PMID:28628103 .
  8. Aung, T, Ozaki, M, Lee, MC, Schlötzer-Schrehardt, U, Thorleifsson, G, Mizoguchi, T, Igo, RP Jr, Haripriya, A, Williams, SE, Astakhov, YS et al.. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat. Genet. 2017; 49 (7): 993-1004. PubMed PMID:28553957 .
  9. Kunkle, BW, Carney, RM, Kohli, MA, Naj, AC, Hamilton-Nelson, KL, Whitehead, PL, Wang, L, Lang, R, Cuccaro, ML, Vance, JM et al.. Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease. Neurosci. Lett. 2017; 649 : 124-129. PubMed PMID:28400126 .
  10. Butkiewicz, M, Haines, JL, Bush, WS. Introducing COCOS: codon consequence scanner for annotating reading frame changes induced by stop-lost and frame shift variants. Bioinformatics 2017; 33 (10): 1561-1562. PubMed PMID:28122779 PubMed Central PMC5423451.
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