Justin Guinney

VLDB 2026 Research / reviewers in the wild / expert

dblp:74/1278 · DBLP profile ↗

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20ranked-venue papers

2as first author

9since 2021 · last 2025

0000-0003-1477-1888ORCID · verified

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 18 · 1 first-author · 9 since 2021Artificial intelligence and machine learning · 2 · 1 first-author

Year	Publication	Venue	Position
2025	National COVID Cohort Collaborative data enhancements: a path for expanding common data models abstract OBJECTIVE: To support long COVID research in National COVID Cohort Collaborative (N3C), the N3C Phenotype and Data Acquisition team created data designs to aid contributing sites in enhancing their data. Enhancements include long COVID specialty clinic indicator; Admission, Discharge, and Transfer transactions; patient-level social determinants of health; and in-hospital use of oxygen supplementation. MATERIALS AND METHODS: For each enhancement, we defined the scope and wrote guidance on how to prepare and populate the data in a standardized way. RESULTS: As of June 2024, 29 sites have added at least one data enhancement to their N3C pipeline. DISCUSSION: The use of common data models is critical to the success of N3C; however, these data models cannot account for all needs. Project-driven data enhancement is required. This should be done in a standardized way in alignment with common data model specifications. Our approach offers a useful pathway for enhancing data to improve fit for purpose. CONCLUSION: In this initiative, we rapidly produced project-specific data modeling guidance and documentation in support of long COVID research while maintaining a commitment to terminology standards and harmonized data. Kellie M. Walters, Marshall Clark, Sofia Dard, Stephanie S. Hong, Elizabeth Kelly, Kristin Kostka, Adam M. Lee, Robert T. Miller, Michele Morris, Matvey Palchuk, Emily R. Pfaff, Adam B. Wilcox, Alexis Graves, Alfred Anzalone, Amin Manna, Amit Saha, Amy Olex, Andrea Zhou, Andrew E. Williams, Andrew Southerland, Andrew T. Girvin, Anita Walden, Anjali A Sharathkumar, Benjamin R. C. Amor, Benjamin Bates, Brian Hendricks, Caleb Alexander, Carolyn T. Bramante, Cavin Ward-Caviness, Charisse R. Madlock-Brown, Christine Suver, Christopher G. Chute, Christopher Dillon, Chunlei Wu, Clare Schmitt, Cliff Takemoto, Dan Housman, Davera Gabriel, David Eichmann, Diego Mazzotti, Don Brown, Eilis A. Boudreau, Elaine L. Hill, Elizabeth Zampino, Emily Carlson Marti, Evan French, Farrukh M. Koraishy, Federico Mariona, Fred W. Prior, George Sokos, Greg Martin, Harold P. Lehmann, Heidi Spratt, Hemalkumar Mehta, Hythem Sidky, J. W. Awori Hayanga, Jami Pincavitch, Jaylyn Clark, Jeremy Richard Harper, Jessica Islam, Jin Ge, Joel Gagnier, Joel H. Saltz, Johanna Loomba, John Buse, Jomol P. Mathew, Joni L. Rutter, Julie A. McMurry, Justin Guinney, Justin Starren, Karen Crowley, Katie Rebecca Bradwell, Ken Wilkins, Kenneth R. Gersing, Kenrick Dwain Cato, Kimberly Murray, Lavance Northington, Lee Allan Pyles, Leonie Misquitta, Lesley Cottrell, Lili M. Portilla, Mariam Deacy, Mark M. Bissell, Mary Emmett, Mary Morrison Saltz, Melissa A. Haendel, Meredith C. B. Adams, Meredith Temple-O'Connor, Michael G. Kurilla, Nabeel Qureshi, Nasia Safdar, Nicole Garbarini, Noha Sharafeldin, Ofer Sadan, Patricia A. Francis, Penny Wung Burgoon, Peter N. Robinson, Philip R. O. Payne, Rafael Fuentes, Randeep Jawa, Rebecca Erwin-Cohen, Rena Patel, Richard A. Moffitt, Richard L. Zhu, Rishi Kamaleswaran, Robert Hurley, Saiju Pyarajan, Samuel G. Michael, Samuel Bozzette, Sandeep Mallipattu, Satyanarayana Vedula, Scott Chapman, Shawn T. O'Neil, Soko Setoguchi, Tellen D. Bennett, Tiffany Callahan, Umit Topaloglu, Usman Sheikh, Valery Gordon, Vignesh Subbian, Warren A. Kibbe, Wenndy Hernandez, Will Beasley, Will Cooper, William Hillegass, Xiaohan Tanner Zhang	J. Am. Medical Informatics Assoc.	71
2023	Evaluation of crowdsourced mortality prediction models as a framework for assessing artificial intelligence in medicine abstract OBJECTIVE: Applications of machine learning in healthcare are of high interest and have the potential to improve patient care. Yet, the real-world accuracy of these models in clinical practice and on different patient subpopulations remains unclear. To address these important questions, we hosted a community challenge to evaluate methods that predict healthcare outcomes. We focused on the prediction of all-cause mortality as the community challenge question. MATERIALS AND METHODS: Using a Model-to-Data framework, 345 registered participants, coalescing into 25 independent teams, spread over 3 continents and 10 countries, generated 25 accurate models all trained on a dataset of over 1.1 million patients and evaluated on patients prospectively collected over a 1-year observation of a large health system. RESULTS: The top performing team achieved a final area under the receiver operator curve of 0.947 (95% CI, 0.942-0.951) and an area under the precision-recall curve of 0.487 (95% CI, 0.458-0.499) on a prospectively collected patient cohort. DISCUSSION: Post hoc analysis after the challenge revealed that models differ in accuracy on subpopulations, delineated by race or gender, even when they are trained on the same data. CONCLUSION: This is the largest community challenge focused on the evaluation of state-of-the-art machine learning methods in a healthcare system performed to date, revealing both opportunities and pitfalls of clinical AI. Timothy Bergquist, Thomas Schaffter, Thomas Yu, Justin Prosser, Jifan Gao, Guanhua Chen 0002, Lukasz Charzewski, Zofia Nawalany, Ivan Brugere, Renata Retkute, Alidivinas Prusokas, Augustinas Prusokas, Yonghwa Choi, Junseok Choe, Inggeol Lee, Sunkyu Kim, Jaewoo Kang, Sean D. Mooney, Justin Guinney	J. Am. Medical Informatics Assoc.	21
2022	Assessing Machine Learning Based Generators for Synthetic Electronic Health Records: A Benchmarking Chao Yan 0004, Ziqi Zhang 0005, Zhiyu Wan, Justin Guinney, Sean D. Mooney, Bradley A. Malin	AMIA	5
2022	Demonstrating an approach for evaluating synthetic geospatial and temporal epidemiologic data utility: results from analyzing >1.8 million SARS-CoV-2 tests in the United States National COVID Cohort Collaborative (N3C) abstract OBJECTIVE: This study sought to evaluate whether synthetic data derived from a national coronavirus disease 2019 (COVID-19) dataset could be used for geospatial and temporal epidemic analyses. MATERIALS AND METHODS: Using an original dataset (n = 1 854 968 severe acute respiratory syndrome coronavirus 2 tests) and its synthetic derivative, we compared key indicators of COVID-19 community spread through analysis of aggregate and zip code-level epidemic curves, patient characteristics and outcomes, distribution of tests by zip code, and indicator counts stratified by month and zip code. Similarity between the data was statistically and qualitatively evaluated. RESULTS: In general, synthetic data closely matched original data for epidemic curves, patient characteristics, and outcomes. Synthetic data suppressed labels of zip codes with few total tests (mean = 2.9 ± 2.4; max = 16 tests; 66% reduction of unique zip codes). Epidemic curves and monthly indicator counts were similar between synthetic and original data in a random sample of the most tested (top 1%; n = 171) and for all unsuppressed zip codes (n = 5819), respectively. In small sample sizes, synthetic data utility was notably decreased. DISCUSSION: Analyses on the population-level and of densely tested zip codes (which contained most of the data) were similar between original and synthetically derived datasets. Analyses of sparsely tested populations were less similar and had more data suppression. CONCLUSION: In general, synthetic data were successfully used to analyze geospatial and temporal trends. Analyses using small sample sizes or populations were limited, in part due to purposeful data label suppression-an attribute disclosure countermeasure. Users should consider data fitness for use in these cases. Jason A. Thomas, Randi E. Foraker, Noa Zamstein, Jon D. Morrow, Philip R. O. Payne, Adam B. Wilcox, Melissa A. Haendel, Christopher G. Chute, Kenneth R. Gersing, Anita Walden, Tellen D. Bennett, David Eichmann, Justin Guinney, Warren A. Kibbe, Emily R. Pfaff, Peter N. Robinson, Joel H. Saltz, Heidi Spratt, Justin Starren, Christine Suver, Chunlei Wu, Davera Gabriel, Stephanie S. Hong, Kristin Kostka, Harold P. Lehmann, Richard A. Moffitt, Michele Morris, Matvey Palchuk, Xiaohan Tanner Zhang, Richard L. Zhu, Benjamin R. C. Amor, Mark M. Bissell, Marshall Clark, Andrew T. Girvin, Adam M. Lee, Robert T. Miller, Kellie M. Walters, Yooree Chae, Connor Cook, Alexandra Dest, Racquel R. Dietz, Thomas Dillon, Patricia A. Francis, Rafael Fuentes, Alexis Graves, Andrew J. Neumann, Shawn T. O'Neil, Usman Sheikh, Andréa M. Volz, Elizabeth Zampino, Christopher P. Austin, Samuel Bozzette, Mariam Deacy, Nicole Garbarini, Michael G. Kurilla, Samuel G. Michael, Joni L. Rutter, Meredith Temple-O'Connor, Katie Rebecca Bradwell, Amin Manna, Nabeel Qureshi, Mary Morrison Saltz, Julie A. McMurry, Carolyn T. Bramante, Jeremy Richard Harper, Wenndy Hernandez, Farrukh M. Koraishy, Federico Mariona, Saidulu Mattapally, Amit Saha, Satyanarayana Vedula, Yujuan Fu, Nisha Mathews, Ofer Mendelevitch	J. Am. Medical Informatics Assoc.	13
2021	COVID-19 Mortality Prediction among Patients with Cancer Using a Large National Cohort Noha Sharafeldin, Vithal Madhira, Katie R. Bradwell, Qianqian Song 0002, Benjamin Bates, Yu R. Shao, Jing Su 0003, Alfred Anzalone, Timothym Bergquist, Sarah Cutrona, Ben S. Gerber, Peter N. Robinson, Justin Guinney, Umit Topaloglu	AMIA	14
2021	A Continuous Crowd-sourced Challenge for Benchmarking COVID-19 Health Outcome Prediction Thomas Schaffter, Timothy Bergquist, Thomas Yu, Justin Prosser, Sean D. Mooney, Justin Guinney	AMIA	7
2021	Knowledge-based classification of fine-grained immune cell types in single-cell RNA-Seq data abstract Single-cell RNA sequencing (scRNA-Seq) is an emerging strategy for characterizing immune cell populations. Compared to flow or mass cytometry, scRNA-Seq could potentially identify cell types and activation states that lack precise cell surface markers. However, scRNA-Seq is currently limited due to the need to manually classify each immune cell from its transcriptional profile. While recently developed algorithms accurately annotate coarse cell types (e.g. T cells versus macrophages), making fine distinctions (e.g. CD8+ effector memory T cells) remains a difficult challenge. To address this, we developed a machine learning classifier called ImmClassifier that leverages a hierarchical ontology of cell type. We demonstrate that its predictions are highly concordant with flow-based markers from CITE-seq and outperforms other tools (+15% recall, +14% precision) in distinguishing fine-grained cell types with comparable performance on coarse ones. Thus, ImmClassifier can be used to explore more deeply the heterogeneity of the immune system in scRNA-Seq experiments. Sara J. C. Gosline, Lance Pflieger, Pierre Wallet, Archana Iyer, Justin Guinney, Andrea Bild, Jeffrey T. Chang	Briefings Bioinform.	6
2021	The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment abstract OBJECTIVE: Coronavirus disease 2019 (COVID-19) poses societal challenges that require expeditious data and knowledge sharing. Though organizational clinical data are abundant, these are largely inaccessible to outside researchers. Statistical, machine learning, and causal analyses are most successful with large-scale data beyond what is available in any given organization. Here, we introduce the National COVID Cohort Collaborative (N3C), an open science community focused on analyzing patient-level data from many centers. MATERIALS AND METHODS: The Clinical and Translational Science Award Program and scientific community created N3C to overcome technical, regulatory, policy, and governance barriers to sharing and harmonizing individual-level clinical data. We developed solutions to extract, aggregate, and harmonize data across organizations and data models, and created a secure data enclave to enable efficient, transparent, and reproducible collaborative analytics. RESULTS: Organized in inclusive workstreams, we created legal agreements and governance for organizations and researchers; data extraction scripts to identify and ingest positive, negative, and possible COVID-19 cases; a data quality assurance and harmonization pipeline to create a single harmonized dataset; population of the secure data enclave with data, machine learning, and statistical analytics tools; dissemination mechanisms; and a synthetic data pilot to democratize data access. CONCLUSIONS: The N3C has demonstrated that a multisite collaborative learning health network can overcome barriers to rapidly build a scalable infrastructure incorporating multiorganizational clinical data for COVID-19 analytics. We expect this effort to save lives by enabling rapid collaboration among clinicians, researchers, and data scientists to identify treatments and specialized care and thereby reduce the immediate and long-term impacts of COVID-19. Melissa A. Haendel, Christopher G. Chute, Tellen D. Bennett, David Eichmann, Justin Guinney, Warren A. Kibbe, Philip R. O. Payne, Emily R. Pfaff, Peter N. Robinson, Joel H. Saltz, Heidi Spratt, Christine Suver, John Wilbanks, Adam B. Wilcox, Andrew E. Williams, Chunlei Wu, Clair Blacketer, Robert L. Bradford, James J. Cimino, Marshall Clark, Evan W. Colmenares, Patricia A. Francis, Davera Gabriel, Alexis Graves, Raju Hemadri, Stephanie S. Hong, George Hripcsak, Dazhi Jiao, Jeffrey G. Klann, Kristin Kostka, Adam M. Lee, Harold P. Lehmann, Lora Lingrey, Robert T. Miller, Michele Morris, Shawn N. Murphy, Karthik Natarajan, Matvey Palchuk, Usman Sheikh, Harold R. Solbrig, Shyam Visweswaran, Anita Walden, Kellie M. Walters, Griffin M. Weber, Xiaohan Tanner Zhang, Richard L. Zhu, Benjamin R. C. Amor, Andrew T. Girvin, Amin Manna, Nabeel Qureshi, Michael G. Kurilla, Samuel G. Michael, Lili M. Portilla, Joni L. Rutter, Christopher P. Austin, Kenneth R. Gersing	J. Am. Medical Informatics Assoc.	5
2021	Crowdsourced identification of multi-target kinase inhibitors for RET- and TAU- based disease: The Multi-Targeting Drug DREAM Challenge abstract A continuing challenge in modern medicine is the identification of safer and more efficacious drugs. Precision therapeutics, which have one molecular target, have been long promised to be safer and more effective than traditional therapies. This approach has proven to be challenging for multiple reasons including lack of efficacy, rapidly acquired drug resistance, and narrow patient eligibility criteria. An alternative approach is the development of drugs that address the overall disease network by targeting multiple biological targets ('polypharmacology'). Rational development of these molecules will require improved methods for predicting single chemical structures that target multiple drug targets. To address this need, we developed the Multi-Targeting Drug DREAM Challenge, in which we challenged participants to predict single chemical entities that target pro-targets but avoid anti-targets for two unrelated diseases: RET-based tumors and a common form of inherited Tauopathy. Here, we report the results of this DREAM Challenge and the development of two neural network-based machine learning approaches that were applied to the challenge of rational polypharmacology. Together, these platforms provide a potentially useful first step towards developing lead therapeutic compounds that address disease complexity through rational polypharmacology. Zhaoping Xiong, Minji Jeon, Robert J. Allaway, Jaewoo Kang, Donghyeon Park, Jinhyuk Lee, Hwisang Jeon, Miyoung Ko, Hualiang Jiang, Mingyue Zheng, Aik Choon Tan, Xindi Guo, Kristen K. Dang, Alexander Tropsha, Chana Hecht, Tirtha K. Das, Heather A. Carlson, Ruben Abagyan, Justin Guinney, Avner Schlessinger, Ross L. Cagan	PLoS Comput. Biol.	20
2020	Global research consortia and data harmonization projects drive the clinical interpretation of cancers Justin Guinney, Subha Madhavan, Melissa A. Haendel, Alex H. Wagner, Ratna R. Thangudu	AMIA	1
2020	Piloting a model-to-data approach to enable predictive analytics in health care through patient mortality prediction abstract OBJECTIVE: The development of predictive models for clinical application requires the availability of electronic health record (EHR) data, which is complicated by patient privacy concerns. We showcase the "Model to Data" (MTD) approach as a new mechanism to make private clinical data available for the development of predictive models. Under this framework, we eliminate researchers' direct interaction with patient data by delivering containerized models to the EHR data. MATERIALS AND METHODS: We operationalize the MTD framework using the Synapse collaboration platform and an on-premises secure computing environment at the University of Washington hosting EHR data. Containerized mortality prediction models developed by a model developer, were delivered to the University of Washington via Synapse, where the models were trained and evaluated. Model performance metrics were returned to the model developer. RESULTS: The model developer was able to develop 3 mortality prediction models under the MTD framework using simple demographic features (area under the receiver-operating characteristic curve [AUROC], 0.693), demographics and 5 common chronic diseases (AUROC, 0.861), and the 1000 most common features from the EHR's condition/procedure/drug domains (AUROC, 0.921). DISCUSSION: We demonstrate the feasibility of the MTD framework to facilitate the development of predictive models on private EHR data, enabled by common data models and containerization software. We identify challenges that both the model developer and the health system information technology group encountered and propose future efforts to improve implementation. CONCLUSIONS: The MTD framework lowers the barrier of access to EHR data and can accelerate the development and evaluation of clinical prediction models. Timothy Bergquist, Thomas Schaffter, Thomas Yu, Vikas Pejaver, Noah Hammarlund, Justin Prosser, Justin Guinney, Sean D. Mooney	J. Am. Medical Informatics Assoc.	8
2016	rCGH: a comprehensive array-based genomic profile platform for precision medicine abstract UNLABELLED: We present rCGH, a comprehensive array-based comparative genomic hybridization analysis workflow, integrating computational improvements and functionalities specifically designed for precision medicine. rCGH supports the major microarray platforms, ensures a full traceability and facilitates profiles interpretation and decision-making through sharable interactive visualizations. AVAILABILITY AND IMPLEMENTATION: The rCGH R package is available on bioconductor (under Artistic-2.0). The aCGH-viewer is available at https://fredcommo.shinyapps.io/aCGH_viewer, and the application implementation is freely available for installation at https://github.com/fredcommo/aCGH_viewer CONTACT: [email protected] SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Frederic Commo, Justin Guinney, Charles Ferté, Brian M. Bot, Celine Lefebvre, Jean-Charles Soria, Fabrice André	Bioinform.	2
2015	The NIH BD2K center for big data in translational genomics abstract The world's genomics data will never be stored in a single repository - rather, it will be distributed among many sites in many countries. No one site will have enough data to explain genotype to phenotype relationships in rare diseases; therefore, sites must share data. To accomplish this, the genetics community must forge common standards and protocols to make sharing and computing data among many sites a seamless activity. Through the Global Alliance for Genomics and Health, we are pioneering the development of shared application programming interfaces (APIs) to connect the world's genome repositories. In parallel, we are developing an open source software stack (ADAM) that uses these APIs. This combination will create a cohesive genome informatics ecosystem. Using containers, we are facilitating the deployment of this software in a diverse array of environments. Through benchmarking efforts and big data driver projects, we are ensuring ADAM's performance and utility. Benedict Paten, Mark Diekhans, Brian J. Druker, Stephen H. Friend, Justin Guinney, Nadine Gassner, Mitchell Guttman, W. James Kent, Patrick Mantey, Adam A. Margolin, Matt Massie, Adam M. Novak, Frank A. Nothaft, Lior Pachter, David A. Patterson 0001, Maciej Smuga-Otto, Joshua M. Stuart, Laura J. van't Veer, Barbara J. Wold, David Haussler	J. Am. Medical Informatics Assoc.	5
2013	GSVA: gene set variation analysis for microarray and RNA-Seq data abstract BACKGROUND: Gene set enrichment (GSE) analysis is a popular framework for condensing information from gene expression profiles into a pathway or signature summary. The strengths of this approach over single gene analysis include noise and dimension reduction, as well as greater biological interpretability. As molecular profiling experiments move beyond simple case-control studies, robust and flexible GSE methodologies are needed that can model pathway activity within highly heterogeneous data sets. RESULTS: To address this challenge, we introduce Gene Set Variation Analysis (GSVA), a GSE method that estimates variation of pathway activity over a sample population in an unsupervised manner. We demonstrate the robustness of GSVA in a comparison with current state of the art sample-wise enrichment methods. Further, we provide examples of its utility in differential pathway activity and survival analysis. Lastly, we show how GSVA works analogously with data from both microarray and RNA-seq experiments. CONCLUSIONS: GSVA provides increased power to detect subtle pathway activity changes over a sample population in comparison to corresponding methods. While GSE methods are generally regarded as end points of a bioinformatic analysis, GSVA constitutes a starting point to build pathway-centric models of biology. Moreover, GSVA contributes to the current need of GSE methods for RNA-seq data. GSVA is an open source software package for R which forms part of the Bioconductor project and can be downloaded at http://www.bioconductor.org. Sonja Hänzelmann, Robert Castelo, Justin Guinney	BMC Bioinform.	3
2013	Improving Breast Cancer Survival Analysis through Competition-Based Multidimensional Modeling abstract Breast cancer is the most common malignancy in women and is responsible for hundreds of thousands of deaths annually. As with most cancers, it is a heterogeneous disease and different breast cancer subtypes are treated differently. Understanding the difference in prognosis for breast cancer based on its molecular and phenotypic features is one avenue for improving treatment by matching the proper treatment with molecular subtypes of the disease. In this work, we employed a competition-based approach to modeling breast cancer prognosis using large datasets containing genomic and clinical information and an online real-time leaderboard program used to speed feedback to the modeling team and to encourage each modeler to work towards achieving a higher ranked submission. We find that machine learning methods combined with molecular features selected based on expert prior knowledge can improve survival predictions compared to current best-in-class methodologies and that ensemble models trained across multiple user submissions systematically outperform individual models within the ensemble. We also find that model scores are highly consistent across multiple independent evaluations. This study serves as the pilot phase of a much larger competition open to the whole research community, with the goal of understanding general strategies for model optimization using clinical and molecular profiling data and providing an objective, transparent system for assessing prognostic models. Erhan Bilal, Janusz Dutkowski, Justin Guinney, In Sock Jang, Benjamin A. Logsdon, Gaurav Pandey 0002, Benjamin A. Sauerwine, Yishai Shimoni, Hans Kristian Moen Vollan, Brigham H. Mecham, Oscar M. Rueda, Jorg Tost, Christina Curtis, Mariano J. Alvarez, Vessela N. Kristensen, Samuel Aparicio, Anne-Lise Børresen-Dale, Carlos Caldas, Andrea Califano, Stephen H. Friend, Trey Ideker, Eric E. Schadt, Gustavo Stolovitzky, Adam A. Margolin	PLoS Comput. Biol.	3
2012	Correlation set analysis: detecting active regulators in disease populations using prior causal knowledge abstract BACKGROUND: Identification of active causal regulators is a crucial problem in understanding mechanism of diseases or finding drug targets. Methods that infer causal regulators directly from primary data have been proposed and successfully validated in some cases. These methods necessarily require very large sample sizes or a mix of different data types. Recent studies have shown that prior biological knowledge can successfully boost a method's ability to find regulators. RESULTS: We present a simple data-driven method, Correlation Set Analysis (CSA), for comprehensively detecting active regulators in disease populations by integrating co-expression analysis and a specific type of literature-derived causal relationships. Instead of investigating the co-expression level between regulators and their regulatees, we focus on coherence of regulatees of a regulator. Using simulated datasets we show that our method performs very well at recovering even weak regulatory relationships with a low false discovery rate. Using three separate real biological datasets we were able to recover well known and as yet undescribed, active regulators for each disease population. The results are represented as a rank-ordered list of regulators, and reveals both single and higher-order regulatory relationships. CONCLUSIONS: CSA is an intuitive data-driven way of selecting directed perturbation experiments that are relevant to a disease population of interest and represent a starting point for further investigation. Our findings demonstrate that combining co-expression analysis on regulatee sets with a literature-derived network can successfully identify causal regulators and help develop possible hypothesis to explain disease progression. Chia-Ling Huang, John Lamb, Leonid Chindelevitch, Jarek Kostrowicki, Justin Guinney, Charles DeLisi, Daniel Ziemek	BMC Bioinform.	5
2011	Estimating variable structure and dependence in multitask learning via gradients abstract We consider the problem of hierarchical or multitask modeling where we simultaneously learn the regression function and the underlying geometry and dependence between variables. We demonstrate how the gradients of the multiple related regression functions over the tasks allow for dimension reduction and inference of dependencies across tasks jointly and for each task individually. We provide Tikhonov regularization algorithms for both classification and regression that are efficient and robust for high-dimensional data, and a mechanism for incorporating a priori knowledge of task (dis)similarity into this framework. The utility of this method is illustrated on simulated and real data. Justin Guinney, Qiang Wu 0003, Sayan Mukherjee 0001	Mach. Learn.	1
2010	Learning Gradients: Predictive Models that Infer Geometry and Statistical Dependence Qiang Wu 0003, Justin Guinney, Mauro Maggioni, Sayan Mukherjee 0001	J. Mach. Learn. Res.	2
2008	F-Seq: a feature density estimator for high-throughput sequence tags abstract UNLABELLED: Tag sequencing using high-throughput sequencing technologies are now regularly employed to identify specific sequence features, such as transcription factor binding sites (ChIP-seq) or regions of open chromatin (DNase-seq). To intuitively summarize and display individual sequence data as an accurate and interpretable signal, we developed F-Seq, a software package that generates a continuous tag sequence density estimation allowing identification of biologically meaningful sites whose output can be displayed directly in the UCSC Genome Browser. AVAILABILITY: The software is written in the Java language and is available on all major computing platforms for download at http://www.genome.duke.edu/labs/furey/software/fseq. Alan P. Boyle, Justin Guinney, Gregory E. Crawford, Terrence S. Furey	Bioinform.	2
2008	Modeling Cancer Progression via Pathway Dependencies abstract Cancer is a heterogeneous disease often requiring a complexity of alterations to drive a normal cell to a malignancy and ultimately to a metastatic state. Certain genetic perturbations have been implicated for initiation and progression. However, to a great extent, underlying mechanisms often remain elusive. These genetic perturbations are most likely reflected by the altered expression of sets of genes or pathways, rather than individual genes, thus creating a need for models of deregulation of pathways to help provide an understanding of the mechanisms of tumorigenesis. We introduce an integrative hierarchical analysis of tumor progression that discovers which a priori defined pathways are relevant either throughout or in particular steps of progression. Pathway interaction networks are inferred for these relevant pathways over the steps in progression. This is followed by the refinement of the relevant pathways to those genes most differentially expressed in particular disease stages. The final analysis infers a gene interaction network for these refined pathways. We apply this approach to model progression in prostate cancer and melanoma, resulting in a deeper understanding of the mechanisms of tumorigenesis. Our analysis supports previous findings for the deregulation of several pathways involved in cell cycle control and proliferation in both cancer types. A novel finding of our analysis is a connection between ErbB4 and primary prostate cancer. Elena J. Edelman, Justin Guinney, Jen-Tsan A. Chi, Phillip G. Febbo, Sayan Mukherjee 0001	PLoS Comput. Biol.	2