Patents & Intellectual Property
Cornejo O, Yee M-C, Glasenapp MR, Garcia O. Methods of Genotyping a Genomic Region of a Subject. U.S. Provisional Patent Application No. 63/879,493. Filed September 24, 2025. Patent pending.
Preprints:
HLA-Resolve: Four-field HLA typing and MHC variant detection from long-read hybrid capture: Glasenapp MR, Yee MC, Symons AE, Garcia OA, Cornejo OE. medRxiv.
HPRC2: A human pangenome reference with near-complete coverage of common genetic variation: Lucas et al. bioRxiv.
De novo genome assembly of four Andean potato weevil species (Premnotrypes, Rhigopsidius), the primary agricultural pest of the potato in South America: Jorgensen K, Garcia OA, Alcazar J, Walden KO, Bigham AW, Mujica Moron N, Vergara Cobian C, Lesnick JJ, Fan C. bioRxiv.
2026
Genomic Evidence for Natural Selection Underlying High Altitude Adaptive Hemoglobin Levels among Peruvian Andeans: Zhu K, Jorgensen KC, Weinstein J, Kiyamu M, Elías G, Isherwood JL, Breidenstein AM, Garcia OA, Gerdes G, Pearson LN, Lee FS, Rivera-Ch M, Leon-Velarde F, Brutsaert TD, Bigham AW. Genome Biology and Evolution
Rapid adaptive increase of amylase gene copy number in Indigenous Andeans: Scheer K, Landau LJB, Jorgensen K, Karageorgiou C, Siao L, Alkan C, Rivera AMM, Osborne C, Garcia OA, Pearson L, Kiyamu M, Rivera-Ch M, León-Velarde F, Lee FS, Brutsaert T, Bigham AW, Gokcumen O. Nature Communications.
2023
High-Altitude Andean H194R HIF2A Allele Is a Hypomorphic Allele: Jorgensen K, Song D, Weinstein J, Garcia OA, Pearson LN, Inclán M, Rivera-Chira M, León-Velarde F, Kiyamu F, Brutsaert TD, Bigham AW, Lee FS. Molecular Biology and Evolution, Volume 40, Issue 7, July 2023, msad162.
The Legacy of Infectious Disease Exposure on the Genomic Diversity of Indigenous Southern Mexicans: Garcia OA, Arsalanian K, Whorf D, Thariath S, Moore L, Brutsaert TD, Shriver M, Li JZ, Bigham AW. Genome Biology and Evolution, Volume 15, Issue 3, March 2023, evad015.
2022
Genetic adaptations to potato starch digestion in the Peruvian Andes: Jorgensen K, Garcia OA, Kiyamu M, Lesnik J, Rivera-Chira M, Leon-Velarde F, Brutsaert TD, Bigham AW. American Journal of Biological Anthropology, 180(1), 162–172.
The Human Pangenome Project: a global resource to map genomic diversity: Wang T, Antonacci-Fulton L, Howe K, et al. & The Human Pangenome Reference Consortium*. Nature 604, 437–446. *Authorship as part of the Human Pangenome Reference Consortium in supplemental author list
2021
Identifying adaptive alleles in the human genome: from selection mapping to functional validation:Werren EA, Garcia OA & Bigham AW. Human Genetics 140, 241–276.
2016
The Perils of “Contact”: Thompson W & Garcia O. Tipití: Journal of the Society for the Anthropology of Lowland South America. Vol. 14: Iss. 1, Article 12, 145-146.
2014
The inflammatory gene pathway is not a major contributor to PCOS: Bhatt S, Mutharasan P, Garcia OA, Jafari N, Legro RS, Dunaif A, Urbanek M. Journal of Clinical Endocrinology and Metabolism. 99:E567-E571.
2013
Fine Mapping of the Chromosome 2p16.3 Polycystic Ovary Syndrome Susceptibility Locus in Affected Women of European Ancestry: Mutharasan P, Galdones E, Bernabe BP, Garcia OA, Jafari N, Shea ND, Woodruff TK, Legro RS, Dunaif A, Urbanek M. Journal of Clinical Endocrinology and Metabolism. 98: E185-E190.
2012
Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts: Goodarzi MO, Jones MR, Li X, Chua A, Garcia OA, Chen YDI, Krauss RM, Rotter JI, Ankener W, Legro RS, Azziz R, Strauss JF, Dunaif A, Urbanek M. Journal of Medical Genetics. 49 (2) : 90-5.