Carlos Bustamante
Adjunct Professor of Personalized Medicine
Research Interests
Prior to joining MBZUAI, Professor Bustamante was Professor of Biomedical Data Science, Genetics, and (by courtesy) Biology at Stanford University. He was also the inaugural Chair of Biomedical Data Science at Stanford and Founding Director of the Stanford Center for Computational, Evolutionary, and Human Genomics. His work at Stanford focused on enabling clinical and medical genomics on a global scale.
Prior to joining Stanford, he was on the faculty at Cornell University where he rose to the rank of Professor in the Departments of Biological Statistics and Computational Biology and Department of Statistical Sciences and served as Associate Director, Cornell Center for Comparative and Population Genomics. There, much of his work focused on population genetics and agricultural genomics motivated by a desire to improve the foods that we eat and the lives of the animals upon which we depend.
Email
Prior to joining MBZUAI, Professor Bustamante led a multidisciplinary team working on problems in genetics of human health and disease. Much of his research has focused on genomics technology, data science, and its application in medical and basic sciences. His work has empowered decision-makers to utilize genomics and data science in the service of improving human health and wellbeing. Throughout his career, Bustamante has sought opportunities for bringing these technologies to consumer and patients, directly, where this work can have the greatest impact.
- Ph.D. in Biology, Harvard University
- Master of Science in Statistics, Harvard University
- Bachelor of Arts in Biology, Harvard University
- Chang-Zuckerberg Biohub Investigator, 2017
- Stanford Prize in Population Genetics and Society, 2016
- The 2010 John D. & Catherine T. MacArthur Fellow, 2011–2016
- Cornell Provost Award for Distinguished Research, 2008
- Sloan Research Fellowship in Molecular Biology, 2007–2009
- Marshall-Sherfield Fellowship, 2001–2002
- Howard Hughes Medical Institute Graduate Research Fellowship, 1999–2001
- National Science Foundation Graduate Research Fellowship, 1997–1998
- US10,981,137 B2. “Enrichment of DNA sequencing libraries from samples containing small amounts of target DNA”. Priority Date: 4 May, 2013. Inventors: Carlos D. Bustamante, Meredith Carpenter, Jason Buenrostro, and William J. Greenleaf. Granted: 20 April, 2021.
- US10,954,509 B2. “Partitioning of DNA sequencing libraries into host and microbial components”. Priority 15 February, 2014. Inventors: Carlos D. Bustamante and Meredith Carpenter. Granted: 23 March, 2021.
- US 10,847,248 B2. “Techniques for determining haplotype by population genotype and sequence data”. Priority: 12 August, 2013. Inventors: Carlos D. Bustamante and Fouad Zakharia. Granted: 24 November, 2020.
- US 10,127,346 B2. “Systems and methods for interpreting a human genome using a synthetic reference sequence”. Priority Date: 13 April, 2012. Inventors: Frederick Dewey, Euan A. Ashley, Matthew Wheeler, Michael Snyder, Carlos Bustamante. Granted: 13 November, 2018.
- “Genomic sequence dataset generation”. Filing Date: 14 September, 2021. Inventors: Daniel Mas Montserrat, Alexander Ioannidis, Carlos Bustamante. Pub. No. US20230326542A1.
- “Local-ancestry inference with machine learning model”. Filing Date: 15 April, 2021. Inventors: Daniel Mas Montserrat, Alexander Ioannidis, Arvind Kumar, Carlos Bustamante, Richa Rastogi, Helgi Hilmarsson. Pub. No. US20230197204A1.
- “Techniques for determining whether an individual is included in ensemble genomic data”. Filing Date: 6 October, 2016. Inventors: Suyash Shringarpure Carlos D. Bustamante. Pub. No.: WO/2017/062599A1
- “Compositions and methods for targeted depletion, enrichment, and partitioning of nucleic acids using crispr/cas system proteins”. Filing Date: 19 December, 2015. Inventors: Meredith Carpenter, Carlos D. Bustamante, Stephane B. Gourguechon. Pub. No.: Wo/2016/100955.
- “Phased whole genome genetic risk in a family quartet”. Pub. Date: 28 March, 2013. Inventors: Frederick Dewey, Euan A. Ashley, Jake Byrnes, Carlos D. Bustamante, Atul J. Butte, Rong Chen. Pub no: 2015/0370959. Grant Number: . Grant Date: 13 September, 2016
- “Compositions and methods for predicting body size in dogs”. Pub. Date: 2 November, 2007. Inventors: Elaine A. Ostrander, Nathaniel B. Sutter, Pascale Quignon, Robert K. Wayne, Melissa Gray, Carlos D. Bustamante, Badri Padhukasahasram, Keyan Zhao, Magnus Nordborg, Ebenezer Satyaraj, Paul G. Jones, Dennis F. Lawler. Pub. No.: WO2008058013A2.
- Bustamante CD, Fledel-Alon A, Williamson S, Nielsen R, Hubisz MT, Glanowski S, Tanenbaum DM, White TJ, Sninsky JJ, Hernandez RD, Civello D, Adams MD, Cargill M, Clark AG. (2005) Natural selection on protein-coding genes in the human genome. Nature 437(7062):1153-7. doi: 10.1038/nature04240. PMID: 16237444.
- Sutter NB, Bustamante CD, Chase K, Gray MM, Zhao K, Zhu L, Padhukasahasram B, Karlins E, Davis S, Jones PG, Quignon P, Johnson GS, Parker HG, Fretwell N, Mosher DS, Lawler DF, Satyaraj E, Nordborg M, Lark KG, Wayne RK, Ostrander EA. (2007) A single IGF1 allele is a major determinant of small size in dogs. Science 316(5821):112-5. doi: 10.1126/science.1137045. PMID: 17412960; PMCID: PMC2789551.
- Lohmueller KE, Indap AR, Schmidt S, Boyko AR, Hernandez RD, Hubisz MJ, Sninsky JJ, White TJ, Sunyaev SR, Nielsen R, Clark AG, Bustamante CD. (2008) Proportionally more deleterious genetic variation in European than in African populations. Nature. 451(7181):994-7. doi: 10.1038/nature06611. PMID: 18288194; PMCID: PMC2923434.
- Novembre J, Johnson T, Bryc K, Kutalik Z, Boyko AR, Auton A, Indap A, King KS, Bergmann S, Nelson MR, Stephens M, Bustamante CD. (2008) Genes mirror geography within Europe. Nature 456(7218):98-101. doi: 10.1038/nature07331. PMID: 18758442; PMCID: PMC2735096.
- Gutenkunst RN, Hernandez RD, Williamson SH, Bustamante CD (2009) Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet 5(10): e1000695.
- Bustamante CD, Burchard EG, La Vega De FM (2011) Genomics for the world. Nature 475(7355): 163–165.
- Henn BM, Gignoux CR, Jobin M, Granka JM, Macpherson JM, et al. (2011) Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proceedings of the National Academy of Sciences 108(13): 5154–5162.
- Kenny EE, Timpson NJ, Sikora M, Yee M-C, Moreno-Estrada A, et al. (2012) Melanesian blond hair is caused by an amino acid change in TYRP1. Science 336(6081): 554.
- Poznik GD, Henn BM, Yee M-C, Sliwerska E, Euskirchen GM, et al. (2013) Sequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus females. Science 341(6145): 562–565.
- Moreno-Estrada A, Gravel S, Zakharia F, McCauley JL, Byrnes JK, et al. (2013) Reconstructing the population genetic history of the Caribbean. PLoS Genet 9(11): e1003925.
- Maples BK, Gravel S, Kenny EE, Bustamante CD (2013) RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference. Am J Hum Genet. doi:10.1016/j.ajhg.2013.06.020.
- Moreno-Estrada A, Gignoux CR, Fernández-López JC, Zakharia F, Sikora M, Contreras AV, Acuña-Alonzo V, Sandoval K, Eng C, Romero-Hidalgo S, Ortiz-Tello P, Robles V, Kenny EE, Nuño-Arana I, Barquera-Lozano R, Macín-Pérez G, Granados-Arriola J, Huntsman S, Galanter JM, Via M, Ford JG, Chapela R, Rodriguez-Cintron W, Rodríguez-Santana JR, Romieu I, Sienra-Monge JJ, del Rio Navarro B, London SJ, Ruiz-Linares A, Garcia-Herrera R, Estrada K, Hidalgo-Miranda A, Jimenez-Sanchez G, Carnevale A, Soberón X, Canizales-Quinteros S, Rangel-Villalobos H, Silva-Zolezzi I, Burchard EG, Bustamante CD. (2014) The genetics of Mexico recapitulates Native American substructure and affects biomedical traits. Science 13;344(6189):1280-5. doi: 10.1126/science.1251688. PMID: 24926019; PMCID: PMC4156478.
- Shringarpure SS, Bustamante CD. (2015) Privacy Risks from Genomic Data-Sharing Beacons. Am J Hum Genet 97(5):631-46. doi: 10.1016/j.ajhg.2015.09.010. Epub 2015 Oct 29. PMID: 26522470; PMCID: PMC4667107.
- Patin E, Lopez M, Grollemund R, Verdu P, Harmant C, Quach H, Laval G, Perry GH, Barreiro LB, Froment A, Heyer E, Massougbodji A, Fortes-Lima C, Migot-Nabias F, Bellis G, Dugoujon JM, Pereira JB, Fernandes V, Pereira L, Van der Veen L, Mouguiama-Daouda P, Bustamante CD, Hombert JM, Quintana-Murci L. (2017) Dispersals and genetic adaptation of Bantu-speaking populations in Africa and North America. Science 356(6337):543-546. doi: 10.1126/science.aal1988. PMID: 28473590.
- De La Vega FM, Bustamante CD. (2018) Polygenic risk scores: a biased prediction? Genome Med. 10(1):100. doi: 10.1186/s13073-018-0610-x. PMID: 30591078; PMCID: PMC6309089.
- Ioannidis AG, Blanco-Portillo J, Sandoval K, Hagelberg E, Miquel-Poblete JF, Moreno-Mayar JV, Rodríguez-Rodríguez JE, Quinto-Cortés CD, Auckland K, Parks T, Robson K, Hill AVS, Avila-Arcos MC, Sockell A, Homburger JR, Wojcik GL, Barnes KC, Herrera L, Berríos S, Acuña M, Llop E, Eng C, Huntsman S, Burchard EG, Gignoux CR, Cifuentes L, Verdugo RA, Moraga M, Mentzer AJ, Bustamante CD, Moreno-Estrada A. (2020) Native American gene flow into Polynesia predating Easter Island settlement. Nature. 583(7817):572-577. doi: 10.1038/s41586-020-2487-2. PMID: 32641827; PMCID: PMC8939867.
- Ioannidis AG, Blanco-Portillo J, Sandoval K, Hagelberg E, Barberena-Jonas C, Hill AVS, Rodríguez-Rodríguez JE, Fox K, Robson K, Haoa-Cardinali S, Quinto-Cortés CD, Miquel-Poblete JF, Auckland K, Parks T, Sofro ASM, Ávila-Arcos MC, Sockell A, Homburger JR, Eng C, Huntsman S, Burchard EG, Gignoux CR, Verdugo RA, Moraga M, Bustamante CD, Mentzer AJ, Moreno-Estrada A. Paths and timings of the peopling of Polynesia inferred from genomic networks. Nature. 2021 Sep;597(7877):522-526. PMID: 34552258
- Lopez-Pineda A, Vernekar M, Moreno-Grau S, Rojas-Muñoz A, Moatamed B, Lee MTM, Nava-Aguilar MA, Gonzalez-Arroyo G, Numakura K, Matsuda Y, Ioannidis A, Katsanis N, Takano T, Bustamante CD. (2022). Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research. Hum Genomics 16(1):37. PMID: 36076307
- Mantes AD, Montserrat DM, Bustamante CD, Giró-I-Nieto X, Ioannidis AG. (2023). Neural ADMIXTURE for rapid genomic clustering. Nat Comput Sci. 2023 (7):621-629. PMID: 37600116
- Moreno-Grau S, Vernekar M, Lopez-Pineda A, Mas-Montserrat D, Barrabés M, Quinto-Cortés CD, Moatamed B, Lee MTM, Yu Z, Numakura K, Matsuda Y, Wall JD, Ioannidis AG, Katsanis N, Takano T, Bustamante CD. (2024). Polygenic risk score portability for common diseases across genetically diverse populations. Hum Genomics. 18(1):93. doi: 10.1186/s40246-024-00664-y. PMID: 39218908
- Katsanis N, Mourtzi N, Quinto-Cortés CD, Martagon AJ, Ioannidis AG, De La Vega FM, Gulcher J, Lee MTM, Faghihi MA, Lopez-Pineda A, Moreno-Grau S, Montserrat DM, Barrabés M, Bonet D, Fernandez PS, Wall J, Moatamed B, Mehta R, Galan-Ramirez GA, Zubirán R, Elias-Lopez D, Tusié-Luna T, Aguilar-Salinas CA, Bustamante CD; F. H. Mexican Registry Group. (2025) Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus. Hum Genomics 19(1):141. doi: 10.1186/s40246-025-00831-9.
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