Predicting the clinical impact of human mutation with deep neural networks von Sundaram, Laksshman, Gao, Hong, Padigepati, Samskruthi Reddy, McRae, Jeremy F., Li, Yanjun, Kosmicki, Jack A., Fritzilas, Nondas, Hakenberg, Jörg, Dutta, Anindita, Shon, John, Xu, Jinbo, Batzoglou, Serafim, Li, Xiaolin, Farh, Kyle Kai-How

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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease von Chen, Brenden, Solis-Villa, Constanza, Hakenberg, Jörg, Qiao, Wanqiong, Srinivasan, Ramakrishnan R., Yasuda, Makiko, Balwani, Manisha, Doheny, Dana, Peter, Inga, Chen, Rong, Desnick, Robert J.

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A comprehensive benchmark of kernel methods to extract protein-protein interactions from literature von Tikk, Domonkos, Thomas, Philippe, Palaga, Peter, Hakenberg, Jörg, Leser, Ulf

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Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases von Chen, Rong, Shi, Lisong, Hakenberg, Jörg, Naughton, Brian, Sklar, Pamela, Zhang, Jianguo, Zhou, Hanlin, Tian, Lifeng, Prakash, Om, Lemire, Mathieu, Sleiman, Patrick, Cheng, Wei-yi, Chen, Wanting, Shah, Hardik, Shen, Yulan, Fromer, Menachem, Omberg, Larsson, Deardorff, Matthew A, Zackai, Elaine, Bobe, Jason R, Levin, Elissa, Hudson, Thomas J, Groop, Leif, Wang, Jun, Hakonarson, Hakon, Wojcicki, Anne, Diaz, George A, Edelmann, Lisa, Schadt, Eric E, Friend, Stephen H

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SETH detects and normalizes genetic variants in text von Thomas, Philippe, Rocktäschel, Tim, Hakenberg, Jörg, Lichtblau, Yvonne, Leser, Ulf

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Disease-associated variants in different categories of disease located in distinct regulatory elements von Ma, Meng, Ru, Ying, Chuang, Ling-Shiang, Hsu, Nai-Yun, Shi, Li-Song, Hakenberg, Jörg, Cheng, Wei-Yi, Uzilov, Andrew, Ding, Wei, Glicksberg, Benjamin S, Chen, Rong

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GNAT library for local and remote gene mention normalization von Hakenberg, Jörg, Gerner, Martin, Haeussler, Maximilian, Solt, Illés, Plake, Conrad, Schroeder, Michael, Gonzalez, Graciela, Nenadic, Goran, Bergman, Casey M

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Comparative analyses of population-scale phenomic data in electronic medical records reveal race-specific disease networks von Glicksberg, Benjamin S, Li, Li, Badgeley, Marcus A, Shameer, Khader, Kosoy, Roman, Beckmann, Noam D, Pho, Nam, Hakenberg, Jörg, Ma, Meng, Ayers, Kristin L, Hoffman, Gabriel E, Dan Li, Shuyu, Schadt, Eric E, Patel, Chirag J, Chen, Rong, Dudley, Joel T

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AliBaba: PubMed as a graph von Plake, Conrad, Schiemann, Torsten, Pankalla, Marcus, Hakenberg, Jörg, Leser, Ulf

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Incremental Information Extraction Using Relational Databases von Tari, Luis, Phan Huy Tu, Hakenberg, Jorg, Yi Chen, Tran Cao Son, Gonzalez, Graciela, Baral, Chitta

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Literature Mining Solutions for Life Science Research von Hakenberg, Jörg, Nenadic, Goran, Rebholz-Schuhmann, Dietrich, Kim, Jin-Dong

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DIVAS: a centralized genetic variant repository representing 150000 individuals from multiple disease cohorts von Cheng, Wei-Yi, Hakenberg, Jorg, Li, Shuyu Dan, Chen, Rong

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Biomedical word sense disambiguation with ontologies and metadata: automation meets accuracy von Alexopoulou, Dimitra, Andreopoulos, Bill, Dietze, Heiko, Doms, Andreas, Gandon, Fabien, Hakenberg, Jörg, Khelif, Khaled, Schroeder, Michael, Wächter, Thomas

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Applications of Natural Language Processing in Biodiversity Science von Thessen, Anne E., Cui, Hong, Mozzherin, Dmitry

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ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories von Wang, Jinlian, Liao, Jun, Zhang, Jinglan, Cheng, Wei-Yi, Hakenberg, Jörg, Ma, Meng, Webb, Bryn D, Ramasamudram-Chakravarthi, Rajasekar, Karger, Lisa, Mehta, Lakshmi, Kornreich, Ruth, Diaz, George A, Li, Shuyu, Edelmann, Lisa, Chen, Rong

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Knowledge Discovery in Life Science Literature: International Workshop, KDLL 2006, Singapore, April 9, 2006, Proceedings von Bremer, Eric G, Hakenberg, Jörg, Han, Eui-Hong Sam, Berrar, Daniel, Dubitzky, Werner

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Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer von Quigley, David A., Dang, Ha X., Zhao, Shuang G., Lloyd, Paul, Aggarwal, Rahul, Alumkal, Joshi J., Foye, Adam, Kothari, Vishal, Perry, Marc D., Bailey, Adina M., Playdle, Denise, Barnard, Travis J., Zhang, Li, Zhang, Jin, Youngren, Jack F., Cieslik, Marcin P., Parolia, Abhijit, Beer, Tomasz M., Thomas, George, Chi, Kim N., Gleave, Martin, Lack, Nathan A., Zoubeidi, Amina, Reiter, Robert E., Rettig, Matthew B., Witte, Owen, Ryan, Charles J., Fong, Lawrence, Kim, Won, Friedlander, Terence, Chou, Jonathan, Li, Haolong, Das, Rajdeep, Li, Hui, Moussavi-Baygi, Ruhollah, Goodarzi, Hani, Gilbert, Luke A., Lara, Primo N., Evans, Christopher P., Goldstein, Theodore C., Stuart, Joshua M., Tomlins, Scott A., Spratt, Daniel E., Cheetham, R. Keira, Cheng, Donavan T., Farh, Kyle, Gehring, Julian S., Hakenberg, Jörg, Liao, Arnold, Febbo, Philip G., Shon, John, Sickler, Brad, Batzoglou, Serafim, Knudsen, Karen E., He, Housheng H., Huang, Jiaoti, Wyatt, Alexander W., Dehm, Scott M., Ashworth, Alan, Chinnaiyan, Arul M., Maher, Christopher A., Small, Eric J., Feng, Felix Y.

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MOLECULAR EVENT EXTRACTION FROM LINK GRAMMAR PARSE TREES IN THE BIONLP'09 SHARED TASK von Hakenberg, Jörg, Solt, Illés, Tikk, Domonkos, Nguyên, Võ Há, Tari, Luis, Nguyen, Quang Long, Baral, Chitta, Leser, Ulf

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Literature Retrieval and Mining in Bioinformatics: State of the Art and Challenges von Manconi, Andrea, Vargiu, Eloisa, Armano, Giuliano, Milanesi, Luciano

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Inter-species normalization of gene mentions with GNAT von Hakenberg, Jörg, Plake, Conrad, Leaman, Robert, Schroeder, Michael, Gonzalez, Graciela

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