Pavel P. Kuksa, PhD, Computer Science
Research Assistant Professor of Pathology and Laboratory MedicinePerelman School of Medicine at the University of Pennsylvania
Contact InformationRichards Medical Research Laboratories
3700 Hamilton Walk
Philadelphia, PA, 19104
Research Expertise
algorithms
sequence analysis and modeling
high-throughput sequencing data analysis
functional genomics
chromatin interaction data modeling and analysis
web servers and databases
Education
BS (Computer Engineering), Bauman Moscow State Technical University, 2002
MS (Computer and Information Sciences), Bauman Moscow State Technical University, 2004
MS (Computer Science), Rutgers University, 2010
PhD (Computer Science), Rutgers University, 2011
Specialty Certification
Postgraduate Training
Postdoctoral Scientist, NEC Laboratories America, 2011-2014
Postdoctoral Researcher, University of Pennsylvania, 2014-2019
Awards and Honors
Reviewers' Choice Abstract Award, American Society of Human Genetics, 2023
Memberships and Professional Organizations
Institute for Biomedical Informatics (IBI), 2014 - Present
NWO Dutch Research Council, 2015 - 2015
European Coordinated Research on Long-term Challenges in Information and Communication Sciences & Technologies ERA-Net (CHIST-ERA), 2015 - 2015
Marsden Fund, 2021 - Present
Institute for Translational Medicine and Therapeutics (ITMAT), 2023 - Present
Web Links
Selected Publications
BTS: a scalable Bayesian Tissue Score for prioritizing GWAS variants and their functional contexts across >1,000s of omics datasets
Pavel P. Kuksa*, Matei Ionita*, Luke Carter, Jeffrey Cifello, Prabhakaran Gangadharan, Kaylyn Clark, Otto Valladares, Yuk Yee Leung, Li-San Wang, Bioinformatics 41(10): , 2025, PMID:41002190
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
Farid Rajabli, Penelope Benchek, Giuseppe Tosto, Nicholas Kushch, Jin Sha, Katrina Bazemore, Congcong Zhu, Wan-Ping Lee, Jacob Haut, Kara L. Hamilton-Nelson, Nicholas R. Wheeler, Yi Zhao, John J. Farrell, Michelle A. Grunin, Yuk Yee Leung, Pavel P. Kuksa, Donghe Li, Eder Lucio da Fonseca, Jesse B. Mez, Ellen L. Palmer, Jagan Pillai, Richard M. Sherva, Yeunjoo E. Song, Xiaoling Zhang, Takeshi Ikeuchi, Taha Iqbal, Omkar Pathak, Otto Valladares, Dolly Reyes-Dumeyer, Amanda B. Kuzma, Erin Abner, Larry D. Adams, Perrie M. Adams, Alyssa Aguirre, Marilyn S. Albert, Roger L. Albin, Mariet Allen, Lisa Alvarez, Liana G. Apostolova, Steven E. Arnold, Sanjay Asthana, Craig S. Atwood, Sanford Auerbach, Gayle Ayres, Clinton T. Baldwin, Robert C. Barber, Lisa L. Barnes, Sandra Barral, Thomas G. Beach, James T. Becker, Gary W. Beecham, Duane Beekly, Bruno A. Benitez, David Bennett, John Bertelson, Thomas D. Bird, Deborah Blacker, Bradley F. Boeve, James D. Bowen, Adam Boxer, James Brewer, James R. Burke, Jeffrey M. Burns, Joseph D. Buxbaum, Nigel J. Cairns, Laura B. Cantwell, Chuanhai Cao, Christopher S. Carlson, Cynthia M. Carlsson, Regina M. Carney, Minerva M. Carrasquillo, Scott Chasse, Marie-Francoise Chesselet, Nathaniel A. Chin, Helena C. Chui, Jaeyoon Chung, Suzanne Craft, Paul K. Crane, David H. Cribbs, Elizabeth A. Crocco, Carlos Cruchaga, Michael L. Cuccaro, Munro Cullum, Eveleen Darby, Barbara Davis, Philip L. De Jager, Charles DeCarli, John DeToledo, Malcolm Dick, Dennis W. Dickson, Beth A. Dombroski, Rachelle S. Doody, Ranjan Duara, NIlüfer Ertekin-Taner, Denis A. Evans, Kelley M. Faber, Thomas J. Fairchild, Kenneth B. Fallon, David W. Fardo, Martin R. Farlow, Victoria Fernandez-Hernandez, Steven Ferris, Robert P. Friedland, Tatiana M. Foroud, Matthew P. Frosch, Brian Fulton-Howard, Douglas R. Galasko, Adriana Gamboa, Marla Gearing, Daniel H. Geschwind, Bernardino Ghetti, John R. Gilbert, Rodney C.P. Go, Alison M. Goate, Thomas J. Grabowski, Neill R. Graff-Radford, Robert C. Green, John H. Growdon, Hakon Hakonarson, James Hall, Ronald L. Hamilton, Oscar Harari, John Hardy, Lindy E. Harrell, Elizabeth Head, Victor W. Henderson, Michelle Hernandez, Timothy Hohman, Lawrence S. Honig, Ryan M. Huebinger, Matthew J. Huentelman, Christine M. Hulette, Bradley T. Hyman, Linda S. Hynan, Laura Ibanez, Gail P. Jarvik, Suman Jayadev, Lee-Way Jin, Kim Johnson, Leigh Johnson, M. Ilyas Kamboh, Anna M. Karydas, Mindy J. Katz, John S. Kauwe, Jeffrey A. Kaye, C. Dirk Keene, Aisha Khaleeq, Masataka Kikuchi, Ronald Kim, Janice Knebl, Neil W. Kowall, Joel H. Kramer, Walter A. Kukull, Frank M. LaFerla, James J. Lah, Eric B. Larson, Alan Lerner, James B. Leverenz, Allan I. Levey, Andrew P. Lieberman, Richard B. Lipton, Mark Logue, Oscar L. Lopez, Kathryn L. Lunetta, Constantine G. Lyketsos, Douglas Mains, Flanagan E. Margaret, Daniel C. Marson, Eden RR. Martin, Frank Martiniuk, Deborah C. Mash, Eliezer Masliah, Paul Massman, Arjun Masurkar, Wayne C. McCormick, Susan M. McCurry, Andrew N. McDavid, Stefan McDonough, Ann C. McKee, Marsel Mesulam, Bruce L. Miller, Carol A. Miller, Joshua W. Miller, Thomas J. Montine, Edwin S. Monuki, John C. Morris, Shubhabrata Mukherjee, Amanda J. Myers, Trung Nguyen, Thomas Obisesan, Sid O’Bryant, John M. Olichney, Marcia Ory, Raymond Palmer, Joseph E. Parisi, Henry L. Paulson, Valory Pavlik, David Paydarfar, Victoria Perez, Elaine Peskind, Ronald C. Petersen, Helen Petrovitch, Aimee Pierce, Marsha Polk, Wayne W. Poon, Huntington Potter, Liming Qu, Mary Quiceno, Joseph F. Quinn, Ashok Raj, Murray Raskind, Eric M. Reiman, Barry Reisberg, Joan S. Reisch, John M. Ringman, Erik D. Roberson, Monica Rodriguear, Ekaterina Rogaeva, Howard J. Rosen, Roger N. Rosenberg, Donald R. Royall, Marwan Sabbagh, A. Dessa Sadovnick, Mark A. Sager, Mary Sano, Andrew J. Saykin, Julie A. Schneider, Lon S. Schneider, William W. Seeley, Susan H. Slifer, Scott Small, Amanda G. Smith, Janet P. Smith, Joshua A. Sonnen, Salvatore Spina, Peter St George-Hyslop, Takiyah D. Starks, Robert A. Stern, Alan B. Stevens, Stephen M. Strittmatter, David Sultzer, Russell H. Swerdlow, Rudolph E. Tanzi, Jeffrey L. Tilson, John Q. Trojanowski, Juan C. Troncoso, Magda Tsolaki, Debby W. Tsuang, Vivianna M. Van Deerlin, Linda J. van Eldik, Jeffery M. Vance, Badri N. Vardarajan, Robert Vassar, Harry V. Vinters, Jean-Paul Vonsattel, Sandra Weintraub, Kathleen A. Welsh-Bohmer, Patrice L. Whitehead, Ellen M. Wijsman, Kirk C. Wilhelmsen, Benjamin Williams, Jennifer Williamson, Henrik Wilms, Thomas S. Wingo, Thomas Wisniewski, Randall L. Woltjer, Martin Woon, Clinton B. Wright, Chuang-Kuo Wu, Steven G. Younkin, Chang-En Yu, Lei Yu, Xiongwei Zhu, Brian W. Kunkle, William S. Bush, Akinori Miyashita, Goldie S. Byrd, Li-San Wang, Lindsay A. Farrer, Jonathan L. Haines, Richard Mayeux, Margaret A. Pericak-Vance, Gerard D. Schellenberg, Gyungah R. Jun, Christiane Reitz, Adam C. Naj, on behalf of Alzheimer’s Disease Genetics Consortium (ADGC), Genome Biology 26(1): 210, 2025, PMID:40676597
NIAGADS: a data repository for Alzheimer's disease and related dementia genomics
Amanda Kuzma, Otto Valladares, Emily Greenfest-Allen, Heather Nicaretta, Maureen Kirsch, Youli Ren, Zivadin Katanic, Heather White, Andrew Wilk, Lauren Bass, Jascha Brettschneider, Luke Carter, Jeffrey Cifello, Wei-Hsuan Chuang, Kaylyn Clark, Prabhakaran Gangadharan, Jacob Haut, Pei-Chuan Ho, Wenhwai Horng, Taha Iqbal, Yumi Jin, Peter Keskinen, Alexis Lerro Rose, Michelle K Moon, Joseph Manuel, Liming Qu, Flawless Robbins, Naveensri Saravanan, Jin Sha, Sam Tate, Yi Zhao, Alzheimer’s Disease Sequencing Project, Laura Cantwell, Jake Gardner, Shin-Yi Chou, Jung-Ying Tzeng, William Bush, Adam Naj, Pavel Kuksa, Wan-Ping Lee, Yuk Yee Leung, Gerard Schellenberg, Li-San Wang, Alzheimer's & Dementia 21(6): e70255, 2025, PMID:40545618
Alzheimer’s Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset
Yuk Yee Leung, Wan-Ping Lee, Amanda B Kuzma, Heather Nicaretta, Otto Valladares, Prabhakaran Gangadharan, Liming Qu, Yi Zhao, Youli Ren, Po-Liang Cheng, Pavel P Kuksa, Hui Wang, Heather White, Zivadin Katanic, Lauren Bass, Naveen Saravanan, Emily Greenfest-Allen, Maureen Kirsch, Laura Cantwell, Taha Iqbal, Nicholas R Wheeler, John J. Farrell, Congcong Zhu, Shannon L Turner, Tamil I Gunasekaran, Pedro R Mena, Jimmy Jin, Luke Carter, Alzheimer’s Disease Sequencing Project, Xiaoling Zhang, Badri N Vardarajan, Arthur Toga, Michael Cuccaro, Timothy J Hohman, William S Bush, Adam C Naj, Eden Martin, Clifton Dalgard, Brian W Kunkle, Lindsay A Farrer, Richard P Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Gerard D Schellenberg, Li-San Wang, Alzheimer's & Dementia 21(5): e70237, 2025, PMID:40407102
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes
Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary & Adam Naj, Nature Communications 15(1): 7880, 2024, PMID:39251599
NIAGADS Alzheimer's GenomicsDB: A resource for exploring Alzheimer's disease genetic and genomic knowledge
Greenfest-Allen E, Valladares O, Kuksa PP, Gangadharan P, Lee WP, Cifello J, Katanic Z, Kuzma AB, Wheeler N, Bush WS, Leung YY, Schellenberg G, Stoeckert CJ Jr, Wang LS., Alzheimers Dement. 20(2): 1123-1136, 2024, PMID:37881831
hipFG: High-throughput harmonization and integration pipeline for functional genomics data
Jeffrey Cifello*, Pavel P. Kuksa*, Naveensri Saravanan, Otto Valladares, Li-San Wang, Yuk Yee Leung, Bioinformatics 39(11): btad673, 2023, PMID:37947320
New insights into the genetic etiology of Alzheimer's disease and related dementias
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, et al., Nature Genetics 54(4): 412-436, 2022, PMID:35379992
Alzheimer's Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer's Disease
Kuksa PP, Liu CL, Fu W, Qu L, Zhao Y, Katanic Z, Clark K, Kuzma AB, Ho PC, Tzeng KT, Valladares O, Chou SY, Naj AC, Schellenberg GD, Wang LS, Leung YY., J Alzheimers Dis 86(1): 461-477, 2022, PMID:35068457
FILER: a framework for harmonizing and querying large-scale functional genomics knowledge
Kuksa PP, Leung YY, Gangadharan P, Katanic Z, Kleidermacher L, Amlie-Wolf A, Lee CY, Qu L, Greenfest-Allen E, Valladares O, Wang LS., NAR Genom Bioinform 4(1): lqab123, 2022, PMID:35047815
