Computational Genomics Researcher
In the Sohail lab, we are interested in both method development using innovative approaches and statistics for reading genetic information, as well as in learning about the evolution and phenotypic variation of diverse humans. We are interested in the mechanisms of evolution, and in genome-wide patterns of selection and their relationship with gene expression patterns. We are further interested in using genomics data to learn about human evolutionary history, complex trait variation and their relationship. We are working on methods for prediction of complex traits and disease in present-day and ancient humans for benefits of preventative and personalized medicine, and for understanding the evolution of complex disease. We are also working on improving genomic resources for underserved groups to unravel their genetic history and complex trait architecture and are focusing these efforts on Mexico and Pakistan.
Mashaal completed her PhD at Harvard University in Systems Biology in the Biomedical Informatics lab of Dr. Shamil Sunyaev. During this time, she completed three projects leading to three major publications. She developed a new statistical approach to detect the global presence of epistasis in the human genome and detected that deleterious genetic variants interact synergistically, augmenting each other’s effects. She and her colleagues also showed that genes that are mono-allelically expressed carry, on average, genetic variants that are older and that are more likely to be under balancing selection. In her final project, she found that signals of polygenic adaptation on human height (used to explain observed height variation among northern and southern Europe as well as globally) were flawed due to misestimation of genetic effects in the genome-wide association studies used to perform these analyses. She also completed a master’s in History of Science at Harvard University, helping her contextualize her work and field in society.
For her post-doctoral research, she worked under the supervision of Dr. Andres Moreno Estrada at the National Laboratory of Genomics for Biodiversity (UGA-Langebio, Cinvestav), and under the supervision of Dr. John Novembre at the University of Chicago. She was awarded the Cinvestav Visiting Professor fellowship and the Chicago Fellows award funding most of her post-doctoral training. She has helped generate the Mexican Biobank, one of the largest genomic resources in Latin America with linked disease and other information for 6000 individuals nation-wide, and has been leading analyses of genetic ancestry and history, and multivariate analyses of complex trait variation incorporating genetic and environmental information. She also developed a project on investigating relative contributions to complex trait architecture from sequence elements originating across multiple evolutionary time-scales.
Since Mashaal has been incorporated into the Center for Genomic Sciences (CCG) of the National Autonomous University of Mexico, she has been developing a research program to study the genetic architecture and evolution of complex traits and disease in diverse humans using genomics, statistical approaches and deep learning. She is doing this work in collaboration with Dr. Carlos Francisco Méndez Cruz (CCG, UNAM), Dr. Diego Ortega Del Vecchyo (LIIGH, UNAM), Dr. Andres Moreno Estrada (UGA-Langebio, Cinvestav), Dr. John Novembre (U Chicago) and an incoming doctoral student, Maria Jose Palma. She also continues to maintain a strong global network of collaborators.
Mashaal is part of the Board of Reviewing Editors at eLife. She has served as reviewer for wide-ranging journals such as eLife, American Journal of Human Genetics (AJHG), Nature Communications, Molecular Biology and Evolution (MBE), Genome Biology and Evolution (GBE), Frontiers in Genetics, Biologia, PeerJ, PCI EvolBiol and PLOS Computational Biology.
She is guest editor of a special research topic “Genetic architecture and evolution of complex traits and diseases in diverse human populations” for the journal Frontiers in Genetics: https://www.frontiersin.org/research-topics/13474/genetic-architecture-and-evolution-of-complex-traits-and-diseases-in-diverse-human-populations
Her own work has been published in widely-read journals such as Science, Nature Genetics, eLife and Molecular Biology and Evolution. Her articles have been cited 1560 times and have also been featured by eLife Insights, Harvard Gazette, Quanta Magazine, and Wired.
Mashaal remains involved in inter-disciplinary initiatives to interrogate the interplay between science and society such as a study group at U Chicago on the history of race and genetics (https://voices.uchicago.edu/geneticists-against-hate/) and a working group on ‘Understanding Variation: normative and analytical implications of using “population” and “ancestry” for generalization and comparison’ sponsored by Harvard University’s Edmond J. Safra Center for Ethics.
Mashaal Sohail*, Robert M. Maier*, Andrea Ganna, Alex Bloemendal, Alicia R. Martin, Michael C. Turchin, Charleston W. K. Chiang, Joel N. Hirschhorn, Mark J. Daly, Nick Patterson, Benjamin M. Neale, Iain Mathieson, David Reich, Shamil R. Sunyaev. Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies. eLife (2019) *equal contribution
Brian Arnold, Mashaal Sohail, Crista Wadsworth, Jukka Corander, William P. Hanage, Shamil Sunyaev, Yonatan H. Grad. Fine-scale haplotype structure reveals strong signatures of positive selection in a recombining bacterial pathogen. Molecular Biology and Evolution (2019)
Mashaal Sohail, Olga A Vakhrusheva, Jae Hoon Sul, Sara Pulit, Laurent Francioli, GoNL Consortium, Alzheimers Disease Neuroimaging Initiative, Leonard H van den Berg, Jan H Veldink, Paul de Bakker, Georgii A Bazykin, Alexey S Kondrashov, Shamil Sunyaev. Negative selection in humans and fruit flies involves synergistic epistasis. Science (2017)
Virginia Savova*, Sung Chun*, Mashaal Sohail*, Ruth B. McCole, Robert Witwicki, Lisa Gai, Tobias L. Lenz, C.-ting Wu, Shamil R. Sunyaev, Alexander A. Gimelbrant. Genes with monoallelic expression contribute disproportionately to genetic diversity in humans. Nature Genetics (2016) *equal contribution
The Genome of the Netherlands Consortium (including Mashaal Sohail). Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nature Genetics (2014)
Telephone: (777) 3132063
|2022||Lewis ACF, Molina SJ, Appelbaum PS, Dauda B, Di Rienzo A, Fuentes A, Fullerton SM, Garrison NA, Ghosh N, Hammonds EM, Jones DS, Kenny EE, Kraft P, Lee SS, Mauro M, Novembre J, Panofsky A, Sohail M, Neale BM, Allen DS. (2022). "Getting genetic ancestry right for science and society.". Science. 376(6590):250-252. [doi:10.1126/science.abm7530]||35420968|
|2022||Ortega-Del Vecchyo Diego, Berg Jeremy, Mashaal Sohail. (2022). "Editorial: Genetic Architecture and Evolution of Complex Traits and Diseases in Diverse Human Populations". Frontiers in Genetics. ():-. [doi:10.3389/fgene.2022.869056]|
|2022||Jiménez-Kaufmann, A., Chong, A.Y., Cortés, A., Quinto-Cortés, C.D., Fernandez-Valverde, S.L., Ferreyra-Reyes, L., Cruz-Hervert, L.P., Medina-Muñoz, S.G., Sohail, M., Palma-Martinez, M.J., Delgado-Sánchez, G., Mongua-Rodríguez, N., Mentzer, A.J., Hill, A.V.S., Moreno-Macías, H., Huerta-Chagoya, A., Aguilar-Salinas, C.A., Torres, M., Kim, H.L., Kalsi, N., Schuster, S.C., Tusié-Luna, T., Del-Vecchyo, D.O., García-García, L., Moreno-Estrada, A.. (2022). "Imputation Performance in Latin American Populations: Improving Rare Variants Representation With the Inclusion of Native American Genomes.". Frontiers in Genetics. 12():-. [doi:10.3389/fgene.2021.719791]||35046991|
|2021||Sohail, M., Izarraras-Gomez, A., Ortega-Del Vecchyo, D.. (2021). "Populations, Traits, and Their Spatial Structure in Humans.". Genome Biology And Evolution. 13(12):-. [doi:10.1093/gbe/evab272]||34894236|
Publications from former affiliations
|2019||Mashaal Sohail, Robert M. Maier, Andrea Ganna, Alex Bloemendal, Alicia R. Martin, Michael C. Turchin, Charleston W. K.Chiang, Joel N. Hirschhorn, Mark J. Daly, Nick Patterson, Benjamin M. Neale, Iain Mathieson, David Reich, Shamil R. Sunyaev. (2019). “Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies”. eLife . [doi: 10.7554/eLife.39702]|
|2019||Brian Arnold, Mashaal Sohail, Crista Wadsworth, Jukka Corander, William P. Hanage, Shamil Sunyaev, Yonatan H. Grad. (2019). “Fine-scale haplotype structure reveals strong signatures of positive selection in a recombining bacterial pathogen”. Molecular Biology and Evolution. 37(2):417-428. [doi: 10.1093/molbev/msz225]||31589312|
|2017||Mashaal Sohail, Olga A Vakhrusheva, Jae Hoon Sul, Sara Pulit, Laurent Francioli, GoNL Consortium, Alzheimers Disease Neuroimaging Initiative, Leonard H van den Berg, Jan H Veldink, Paul de Bakker, Georgii A Bazykin, Alexey S Kondrashov, Shamil Sunyaev. (2017). “Negative selection in humans and fruit flies involves synergistic epistasis”. Science. 356(6337):539-542. [doi:10.1126/science.aah5238]||28473589|
|2017||Laurent C. Francioli, Mircea Cretu-Stancu, Kiran V. Garimella, Menachem Fromer, Wigard P. Kloosterman, Genome of the Netherlands consortium (including Mashaal Sohail), Kaitlin E. Samocha, et al. (2017). “A Framework for the Detection of de Novo Mutations in Family-Based Sequencing Data”. European Journal of Human Genetics. 25(2):227-233. [doi: 10.1038/ejhg.2016.147]||27876817|
|2016||Virginia Savova*, Sung Chun*, Mashaal Sohail*, Ruth B. McCole, Robert Witwicki, Lisa Gai, Tobias L. Lenz, C.-ting Wu, Shamil R. Sunyaev, Alexander A. Gimelbrant. (2016). “Genes with monoallelic expression contribute disproportionately to genetic diversity in humans”. Nature Genetics. *equal contribution 48(3):231-237. [doi:10.1038/ng.3493]||26808112|
|2015||Elisabeth M. van Leeuwen, Alexandros Kanterakis, Patrick Deelen, Mathijs V. Kattenberg, Genome of the Netherlands Consortium (including Mashaal Sohail), P. Eline Slagboom, Paul I. W. de Bakker, et al. (2015). “Population-Specific Genotype Imputations Using Minimac or IMPUTE2″. Nature Protocols. 10(9):1285-6. [doi:10.1038/nprot.2015.077]||26226460|
|2015||Van Leuuwen, EM., Karssen, LC., Deelen J., Isaacs, A., Medina-Gomez C., Mbarek, H., Kanterakis, A., Trompet, S., Postmus, I., Verweii, N., can Enckevort, DJ, Huffman, JE, White, CC, Feitosa, MF, Bartz, TM, Manichaikul, A., Joshi, PK, Peloso, GM, Deelen, P., can Dijk, F., Willemsen, G., de Geus EJ, Milaneschi, Y., Penninx, BW., Francioli, LC, Menelaou, A., Pulit, SL, Rivadeneira, F., Hofman, A. Oostra BA, Franco OH, Meteo, L., Beekman, M., de Craen, AJ, Uh HW, Trochet H, Hocking LJ, Porteous, DJ, Sattar, N., Packard, CJ, Buckley, BM, Brody, JA, Bis, JC, Rotter JI, Mychaeleckvi, JC, Campbell, H., Duan, Q., Lange, LA, Wilson, JF, Hayward, C., Polasek, O., Vitart, V., Rudan, I., Wright, AF, Rich, SS, Psaty, BM, Borecki, IB, Kearney, PM, Stott, DJ, Adrienne, Cupples L., Genome of the Netherlands Consortium (including Mashaal Sohail), Jukema, JW, van de Harst, P, Sijbrands, EJ, Hottenga, JJ, Uitterlinden, AG, Swertz, MA, van Ommen GJ, de Bakker PI, Eline Slagboom, P. Bommsma, DI, Wijmeng, C., van Duijn, CM. (2015). “Genome of The Netherlands Population-Specific Imputations Identify an ABCA6 Variant Associated with Cholesterol Levels”. Nature Communications. 6:6065. [doi:10.1038/ncomms7065]||25751400|
|2014||The Genome of the Netherlands Consortium (including Mashaal Sohail). (2014). “Whole-genome sequence variation, population structure and demographic history of the Dutch population”. Nature Genetics. 46(8):818-25. [doi:10.1038/ng.3021]||24974849|
|2014||Deelna, P., Menelaou, A., van Leeuwen, EM, Kanterakis, A, van Dijk, F, Medina-Gomez, C, Francioli, LC, Hottenga JJ, Karssen LC, Estrada, K, Kreiner-Moller, E, Rivadeneira, F, van Setten J, Gutierrez-Achurty J, Westra HJ, Franke L, van Enckevort D, Dijkstra M, Byelas H, van Duij CM, Genome of the Netherlands Consortium (including Mashaal Sohail), de Bakker PI, Wijmenga C, Swertz MA. (2014). “Improved Imputation Quality of Low-Frequency and Rare Variants in European Samples Using the ‘Genome of The Netherlands”. European Journal of Human Genetics. 22(11):1321-6. [doi:10.1038/ejhg.2014.19]||24896149|
|2011||James J. Moon, Heikyung Suh, Anna Bershteyn, Matthias T. Stephan, Haipeng Liu, Bonnie Huang, Mashaal Sohail, Samantha Luo, Soong Ho Um, Htet Khant, Jessica T. Goodwin, Jenelyn Ramos, Wah Chiu, Darrell J. Irvine. (2011). “Interbilayer-crosslinked multilamellar vesicles as synthetic vaccines for potent humoral and cellular immune responses”. Nature Materials. 10(3):243-51. [doi:10.1038/nmat2960]||21336265|