Gwênlyn Glusman, PhD

Principal Scientist

Computational Genomics

Using computational approaches, Dr. Glusman investigates genome structure and evolution; multi-gene families; prediction and discovery of genes and transcripts; genes not coding for proteins; visualization of complex data; and image analysis. Her algorithms are contributing to the discovery of genes that are not easily identified using standard procedures, to the interpretation of large-scale transcriptomic and genomic data, and to the study of disease genetics.

PhD, Biology, Weizmann Institute, 2002

Computational Genomics and Transcriptomics

Glusman, G., L. Rowen, I. Lee, C. Boysen, J. Roach, A. Smit, K. Wang, B. F. Koop, and L. Hood. 2001. “Comparative Genomics of the Human and Mouse T Cell Receptor Loci.” Immunity 15 (3): 337–49. Cite
Aparicio, S., J. Chapman, E. Stupka, N. Putnam, J. M. Chia, P. Dehal, A. Christoffels, et al. 2002. “Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu Rubripes.” Science 297 (5585): 1301–10. Cite
Mouse Genome Sequencing, Consortium, R. H. Waterston, K. Lindblad-Toh, E. Birney, J. Rogers, J. F. Abril, P. Agarwal, et al. 2002. “Initial Sequencing and Comparative Analysis of the Mouse Genome.” Nature 420 (6915): 520–62. Cite
Goo, Y. A., J. Roach, G. Glusman, N. S. Baliga, K. Deutsch, M. Pan, S. Kennedy, S. DasSarma, W. V. Ng, and L. Hood. 2004. “Low-Pass Sequencing for Microbial Comparative Genomics.” BMC Genomics 5 (1): 3. Cite
Daza-Vamenta, R., G. Glusman, L. Rowen, B. Guthrie, and D. E. Geraghty. 2004. “Genetic Divergence of the Rhesus Macaque Major Histocompatibility Complex.” Genome Res 14 (8): 1501–15. Cite
Baliga, N. S., R. Bonneau, M. T. Facciotti, M. Pan, G. Glusman, E. W. Deutsch, P. Shannon, et al. 2004. “Genome Sequence of Haloarcula Marismortui: A Halophilic Archaeon from the Dead Sea.” Genome Res 14 (11): 2221–34. Cite
Glusman, G., A. Kaur, L. Hood, and L. Rowen. 2004. “An Enigmatic Fourth Runt Domain Gene in the Fugu Genome: Ancestral Gene Loss versus Accelerated Evolution.” BMC Evol Biol 4 (November): 43. Cite
Smink, L. J., E. M. Helton, B. C. Healy, C. C. Cavnor, A. C. Lam, D. Flamez, O. S. Burren, et al. 2005. “T1DBase, a Community Web-Based Resource for Type 1 Diabetes Research.” Nucleic Acids Res 33 (Database issue): D544-9. Cite
Gilad, Y., O. Man, and G. Glusman. 2005. “A Comparison of the Human and Chimpanzee Olfactory Receptor Gene Repertoires.” Genome Res 15 (2): 224–30. Cite
Cieslewicz, M. J., D. Chaffin, G. Glusman, D. Kasper, A. Madan, S. Rodrigues, J. Fahey, M. R. Wessels, and C. E. Rubens. 2005. “Structural and Genetic Diversity of Group B Streptococcus Capsular Polysaccharides.” Infect Immun 73 (5): 3096–3103. Cite
Roach, J., G. Glusman, L. Rowen, A. Kaur, M. K. Purcell, K. D. Smith, L. E. Hood, and A. Aderem. 2005. “The Evolution of Vertebrate Toll-like Receptors.” Proc Natl Acad Sci U S A 102 (27): 9577–82. Cite
Rowen, L., E. Williams, G. Glusman, E. Linardopoulou, C. Friedman, M. E. Ahearn, J. Seto, et al. 2005. “Interchromosomal Segmental Duplications Explain the Unusual Structure of PRSS3, the Gene for an Inhibitor-Resistant Trypsinogen.” Mol Biol Evol 22 (8): 1712–20. Cite
Glusman, G., S. Qin, M. R. El-Gewely, A. F. Siegel, J. Roach, L. Hood, and A. Smit. 2006. “A Third Approach to Gene Prediction Suggests Thousands of Additional Human Transcribed Regions.” PLoS Comput Biol 2 (3): e18. Cite
Lu, W., D. Zhou, G. Glusman, A. G. Utleg, J. T. White, P. S. Nelson, T. J. Vasicek, L. Hood, and B. Lin. 2006. “KLK31P Is a Novel Androgen Regulated and Transcribed Pseudogene of Kallikreins That Is Expressed at Lower Levels in Prostate Cancer Cells than in Normal Prostate Cells.” Prostate 66 (9): 936–44. Cite
Roach, J., K. Deutsch, S. Li, A. F. Siegel, L. M. Bekris, D. C. Einhaus, C. M. Sheridan, et al. 2006. “Genetic Mapping at 3-Kilobase Resolution Reveals Inositol 1,4,5-Triphosphate Receptor 3 as a Risk Factor for Type 1 Diabetes in Sweden.” Am J Hum Genet 79 (4): 614–27. Cite
Dishaw, L. J., M. G. Mueller, N. Gwatney, J. P. Cannon, R. N. Haire, R. T. Litman, C. T. Amemiya, et al. 2008. “Genomic Complexity of the Variable Region-Containing Chitin-Binding Proteins in Amphioxus.” BMC Genet 9: 78. Cite
Glusman, G., and A. Smit. 2009. “Genome Organization.” In Encyclopedia of Complexity and Systems Science, 4:4160–78. New York: Springer. Cite
Kutlu, B., A. G. Kayali, S. Jung, G. Parnaud, D. Baxter, G. Glusman, N. Goodman, L. A. Behie, A. Hayek, and L. Hood. 2009. “Meta-Analysis of Gene Expression in Human Pancreatic Islets after in Vitro Expansion.” Physiol Genomics 39 (1): 72–81. Cite
Glusman, G., B. Marzolf, K. Wang, J.-H. Cho, B. Kutlu, and Q. Tian. 2010. “Bioinformatics Strategies for Understanding Gene Expression in Human Pluripotent Cells.” In Human Stem Cell Technology and Biology: A Research Guide and Laboratory Manual. Wiley-Blackwell. Cite
Roach, J., G. Glusman, A. Smit, C. D. Huff, R. Hubley, P. Shannon, L. Rowen, et al. 2010. “Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing.” Science 328 (5978): 636–39. Cite
Roach, J. C., G. Glusman, R. Hubley, S. Z. Montsaroff, A. K. Holloway, D. E. Mauldin, D. Srivastava, et al. 2011. “Chromosomal Haplotypes by Genetic Phasing of Human Families.” American Journal of Human Genetics, August. Cite
Glusman, G., J. Caballero, D. Mauldin, L. Hood, and J. Roach. 2011. “KAVIAR: An Accessible System for Testing SNV Novelty.” Bioinformatics, September. Cite
Glusman, Gustavo, Mike Cariaso, Rafael Jimenez, Daniel Swan, Bastian Greshake, Jong Bhak, Darren W. Logan, and Manuel Corpas. 2012. “Low Budget Analysis of Direct-To-Consumer Genomic Testing Familial Data.” F1000Research 1: 3. Cite
Xu, D., J. Caballero, G. Glusman, and Q. Tian. 2013. “Diagnostic Perspectives in the Epoch of Next-Generation Sequencing.” Next-Generation Sequencing & Molecular Diagnostics., no. 98–111. Cite
Flores, Mauricio, Gustavo Glusman, Kristin Brogaard, Nathan D. Price, and Leroy Hood. 2013. “P4 Medicine: How Systems Medicine Will Transform the Healthcare Sector and Society.” Personalized Medicine 10 (6). Cite
Glusman, G. 2013. “Clinical Applications of Sequencing Take Center Stage.” Genome Biol 14 (3): 303. Cite
Glusman, Gustavo, Juan Caballero, Max Robinson, Burak Kutlu, and Leroy Hood. 2013. “Optimal Scaling of Digital Transcriptomes.” PLoS ONE 8 (11): e77885. Cite
Li, H., G. Glusman, C. Huff, J. Caballero, and J. C. Roach. 2014. “Accurate and Robust Prediction of Genetic Relationship from Whole-Genome Sequences.” PloS One 9 (2): e85437. Cite
Glusman, Gustavo, Hannah C. Cox, and Jared C. Roach. 2014. “Whole-Genome Haplotyping Approaches and Genomic Medicine.” Genome Medicine 6 (9): 73. Cite
Gierman, Hinco J., Kristen Fortney, Jared C. Roach, Natalie S. Coles, Hong Li, Gustavo Glusman, Glenn J. Markov, et al. 2014. “Whole-Genome Sequencing of the World’s Oldest People.” PloS One 9 (11): e112430. Cite
Krishna, Abhimanyu, Maria Biryukov, Christophe Trefois, Paul M. A. Antony, Rene Hussong, Jake Lin, Merja Heinäniemi, et al. 2014. “Systems Genomics Evaluation of the SH-SY5Y Neuroblastoma Cell Line as a Model for Parkinson’s Disease.” BMC Genomics 15: 1154. Cite
Brownstein, Catherine A., Alan H. Beggs, Nils Homer, Barry Merriman, Timothy W. Yu, Katherine C. Flannery, Elizabeth T. DeChene, et al. 2014. “An International Effort towards Developing Standards for Best Practices in Analysis, Interpretation and Reporting of Clinical Genome Sequencing Results in the CLARITY Challenge.” Genome Biology 15 (3): R53. Cite
Li, H., G. Glusman, H. Hu, Shankaracharya, J. Caballero, R. Hubley, D. Witherspoon, et al. 2014. “Relationship Estimation from Whole-Genome Sequence Data.” PLoS Genetics 10 (1): e1004144. Cite
Hu, Hao, Jared C. Roach, Hilary Coon, Stephen L. Guthery, Karl V. Voelkerding, Rebecca L. Margraf, Jacob D. Durtschi, et al. 2014. “A Unified Test of Linkage Analysis and Rare-Variant Association for Analysis of Pedigree Sequence Data.” Nature Biotechnology 32 (7): 663–69. Cite
Caballero, Juan, Arian F. A. Smit, Leroy Hood, and Gustavo Glusman. 2014. “Realistic Artificial DNA Sequences as Negative Controls for Computational Genomics.” Nucleic Acids Research 42 (12): e99. Cite
Stittrich, Anna-Barbara, Anna Lehman, Dale L. Bodian, Justin Ashworth, Zheyuan Zong, Hong Li, Patricia Lam, et al. 2014. “Mutations in NOTCH1 Cause Adams-Oliver Syndrome.” American Journal of Human Genetics 95 (3): 275–84. Cite
Lehman, Anna, Anna-Barbara Stittrich, Gustavo Glusman, Zheyuan Zong, Hong Li, Patrice Eydoux, Christof Senger, Christopher Lyons, Jared C. Roach, and Millan Patel. 2014. “Diffuse Angiopathy in Adams-Oliver Syndrome Associated with Truncating DOCK6 Mutations.” American Journal of Medical Genetics. Part A 164A (10): 2656–62. Cite
Lalli, Matthew A., Hannah C. Cox, Mary L. Arcila, Liliana Cadavid, Sonia Moreno, Gloria Garcia, Lucia Madrigal, et al. 2014. “Origin of the PSEN1 E280A Mutation Causing Early-Onset Alzheimer’s Disease.” Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association 10 (5 Suppl): S277-S283.e10. Cite
Schubert, Julian, Aleksandra Siekierska, Mélanie Langlois, Patrick May, Clément Huneau, Felicitas Becker, Hiltrud Muhle, et al. 2014. “Mutations in STX1B, Encoding a Presynaptic Protein, Cause Fever-Associated Epilepsy Syndromes.” Nature Genetics 46 (12): 1327–32. Cite
Corpas, M., W. Valdivia-Granda, N. Torres, B. Greshake, A. Coletta, A. Knaus, A. P. Harrison, et al. 2015. “Crowdsourced Direct-to-Consumer Genomic Analysis of a Family Quartet.” BMC Genomics 16: 910. Cite
Ameziane, N., P. May, A. Haitjema, H. J. van de Vrugt, S. E. van Rossum-Fikkert, D. Ristic, G. J. Williams, et al. 2015. “A Novel Fanconi Anaemia Subtype Associated with a Dominant-Negative Mutation in RAD51.” Nature Communications 6: 8829. Cite
Viollet, Louis, G. Glusman, Kelley J. Murphy, Tara M. Newcomb, Sandra P. Reyna, Matthew Sweney, Benjamin Nelson, et al. 2015. “Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.” PLoS One 10: e0127045. Cite
Glusman, G., A. Severson, V. Dhankani, M. Robinson, T. Farrah, D. E. Mauldin, A. B. Stittrich, et al. 2015. “Identification of Copy Number Variants in Whole-Genome Data Using Reference Coverage Profiles.” Frontiers in Genetics 6: 45. Cite
Ament, Seth A., Szabolcs Szelinger, Gustavo Glusman, Justin Ashworth, Liping Hou, Nirmala Akula, Tatyana Shekhtman, et al. 2015. “Rare Variants in Neuronal Excitability Genes Influence Risk for Bipolar Disorder.” Proceedings of the National Academy of Sciences of the United States of America 112 (11): 3576–81. Cite
He, Yuqing, Kang Zeng, Xibao Zhang, Qiaolin Chen, Jiang Wu, Hong Li, Yong Zhou, et al. 2015. “A Gain-of-Function Mutation in TRPV3 Causes Focal Palmoplantar Keratoderma in a Chinese Family.” The Journal of Investigative Dermatology 135 (3): 907–9. Cite
Meester, J. A., L. Southgate, A. B. Stittrich, H. Venselaar, S. J. Beekmans, N. den Hollander, E. K. Bijlsma, et al. 2015. “Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.” American Journal of Human Genetics 97 (September): 475–82. Cite
Toga, Arthur W., Ian Foster, Carl Kesselman, Ravi Madduri, Kyle Chard, Eric W. Deutsch, Nathan D. Price, et al. 2015. “Big Biomedical Data as the Key Resource for Discovery Science.” Journal of the American Medical Informatics Association : JAMIA 22 (6): 1126–31. Cite
Lalli, M. A., B. M. Bettcher, M. L. Arcila, G. Garcia, C. Guzman, L. Madrigal, L. Ramirez, et al. 2015. “Whole-Genome Sequencing Suggests a Chemokine Gene Cluster That Modifies Age at Onset in Familial Alzheimer’s Disease.” Molecular Psychiatry 20 (November): 1294–1300. Cite
Dinov, Ivo D., Ben Heavner, Ming Tang, Gustavo Glusman, Kyle Chard, Mike Darcy, Ravi Madduri, et al. 2016. “Predictive Big Data Analytics: A Study of Parkinson’s Disease Using Large, Complex, Heterogeneous, Incongruent, Multi-Source and Incomplete Observations.” PloS One 11 (8): e0157077. Cite