The role of exome sequencing in newborn screening for inborn errors of metabolism von Adhikari, Aashish N., Gallagher, Renata C., Wang, Yaqiong, Currier, Robert J., Amatuni, George, Bassaganyas, Laia, Chen, Flavia, Kundu, Kunal, Kvale, Mark, Mooney, Sean D., Nussbaum, Robert L., Randi, Savanna S., Sanford, Jeremy, Shieh, Joseph T., Srinivasan, Rajgopal, Sunderam, Uma, Tang, Hao, Vaka, Dedeepya, Zou, Yangyun, Koenig, Barbara A., Kwok, Pui-Yan, Risch, Neil, Puck, Jennifer M., Brenner, Steven E.

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Harnessing formal concepts of biological mechanism to analyze human disease von Darden, Lindley, Kundu, Kunal, Pal, Lipika R, Moult, John

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MecCog: a knowledge representation framework for genetic disease mechanism von Kundu, Kunal, Darden, Lindley, Moult, John

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Molecular characterization of bixin—An important industrial product von Siva, Ramamoorthy, Doss, Febin Prabhu, Kundu, Kunal, Satyanarayana, V.S.V., Kumar, Vijaya

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Intratumoral dendritic cell–CD4+ T helper cell niches enable CD8+ T cell differentiation following PD-1 blockade in hepatocellular carcinoma von Magen, Assaf, Hamon, Pauline, Fiaschi, Nathalie, Soong, Brian Y., Park, Matthew D., Mattiuz, Raphaël, Humblin, Etienne, Troncoso, Leanna, D’souza, Darwin, Dawson, Travis, Kim, Joel, Hamel, Steven, Buckup, Mark, Chang, Christie, Tabachnikova, Alexandra, Schwartz, Hara, Malissen, Nausicaa, Lavin, Yonit, Soares-Schanoski, Alessandra, Giotti, Bruno, Hegde, Samarth, Ioannou, Giorgio, Gonzalez-Kozlova, Edgar, Hennequin, Clotilde, Le Berichel, Jessica, Zhao, Zhen, Ward, Stephen C., Fiel, Isabel, Kou, Baijun, Dobosz, Michael, Li, Lianjie, Adler, Christina, Ni, Min, Wei, Yi, Wang, Wei, Atwal, Gurinder S., Kundu, Kunal, Cygan, Kamil J., Tsankov, Alexander M., Rahman, Adeeb, Price, Colles, Fernandez, Nicolas, He, Jiang, Gupta, Namita T., Kim-Schulze, Seunghee, Gnjatic, Sacha, Kenigsberg, Ephraim, Deering, Raquel P., Schwartz, Myron, Marron, Thomas U., Thurston, Gavin, Kamphorst, Alice O., Merad, Miriam

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Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype‐weighted knowledge in the CAGI SickKids5 clinical genomes challenge... von Pal, Lipika R., Kundu, Kunal, Yin, Yizhou, Moult, John

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CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease von Pal, Lipika R., Kundu, Kunal, Yin, Yizhou, Moult, John

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Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N‐acetyl‐glucosaminidase) and UBE2I (Human SUMO‐ligase) challe... von Yin, Yizhou, Kundu, Kunal, Pal, Lipika R., Moult, John

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CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants von Pal, Lipika R., Kundu, Kunal, Yin, Yizhou, Moult, John

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Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge von Kundu, Kunal, Pal, Lipika R., Yin, Yizhou, Moult, John

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Assessment of methods for predicting the effects of PTEN and TPMT protein variants von Pejaver, Vikas, Babbi, Giulia, Casadio, Rita, Folkman, Lukas, Katsonis, Panagiotis, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Miller, Maximilian, Moult, John, Pal, Lipika R., Savojardo, Castrense, Yin, Yizhou, Zhou, Yaoqi, Radivojac, Predrag, Bromberg, Yana

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Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge von Carraro, Marco, Monzon, Alexander Miguel, Chiricosta, Luigi, Reggiani, Francesco, Aspromonte, Maria Cristina, Bellini, Mariagrazia, Pagel, Kymberleigh, Jiang, Yuxiang, Radivojac, Predrag, Kundu, Kunal, Pal, Lipika R., Yin, Yizhou, Limongelli, Ivan, Andreoletti, Gaia, Moult, John, Wilson, Stephen J., Katsonis, Panagiotis, Lichtarge, Olivier, Chen, Jingqi, Wang, Yaqiong, Hu, Zhiqiang, Brenner, Steven E., Ferrari, Carlo, Murgia, Alessandra, Tosatto, Silvio C.E., Leonardi, Emanuela

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Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges von Daneshjou, Roxana, Wang, Yanran, Bromberg, Yana, Bovo, Samuele, Martelli, Pier L, Babbi, Giulia, Lena, Pietro Di, Casadio, Rita, Edwards, Matthew, Gifford, David, Jones, David T, Sundaram, Laksshman, Bhat, Rajendra Rana, Li, Xiaolin, Pal, Lipika R., Kundu, Kunal, Yin, Yizhou, Moult, John, Jiang, Yuxiang, Pejaver, Vikas, Pagel, Kymberleigh A., Li, Biao, Mooney, Sean D., Radivojac, Predrag, Shah, Sohela, Carraro, Marco, Gasparini, Alessandra, Leonardi, Emanuela, Giollo, Manuel, Ferrari, Carlo, Tosatto, Silvio C E, Bachar, Eran, Azaria, Johnathan R., Ofran, Yanay, Unger, Ron, Niroula, Abhishek, Vihinen, Mauno, Chang, Billy, Wang, Maggie H, Franke, Andre, Petersen, Britt‐Sabina, Pirooznia, Mehdi, Zandi, Peter, McCombie, Richard, Potash, James B., Altman, Russ B., Klein, Teri E., Hoskins, Roger A., Repo, Susanna, Brenner, Steven E., Morgan, Alexander A.

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Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016 von Clark, Wyatt T., Kasak, Laura, Bakolitsa, Constantina, Hu, Zhiqiang, Andreoletti, Gaia, Babbi, Giulia, Bromberg, Yana, Casadio, Rita, Dunbrack, Roland, Folkman, Lukas, Ford, Colby T., Jones, David, Katsonis, Panagiotis, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier L., Mooney, Sean D., Nodzak, Conor, Pal, Lipika R., Radivojac, Predrag, Savojardo, Castrense, Shi, Xinghua, Zhou, Yaoqi, Uppal, Aneeta, Xu, Qifang, Yin, Yizhou, Pejaver, Vikas, Wang, Meng, Wei, Liping, Moult, John, Yu, Guoying Karen, Brenner, Steven E., LeBowitz, Jonathan H.

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CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases von Kasak, Laura, Hunter, Jesse M., Udani, Rupa, Bakolitsa, Constantina, Hu, Zhiqiang, Adhikari, Aashish N., Babbi, Giulia, Casadio, Rita, Gough, Julian, Guerrero, Rafael F., Jiang, Yuxiang, Joseph, Thomas, Katsonis, Panagiotis, Kotte, Sujatha, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Mooney, Sean D., Moult, John, Pal, Lipika R., Poitras, Jennifer, Radivojac, Predrag, Rao, Aditya, Sivadasan, Naveen, Sunderam, Uma, Saipradeep, V. G., Yin, Yizhou, Zaucha, Jan, Brenner, Steven E., Meyn, M. Stephen

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Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs) von Patel, Jay P., Puck, Jennifer M., Srinivasan, Rajgopal, Brown, Christina, Sunderam, Uma, Kundu, Kunal, Brenner, Steven E., Gatti, Richard A., Church, Joseph A.

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690 Correlates of poor response to neoadjuvant anti-PD-1 therapy in hepatocellular carcinoma (HCC) include WNT pathway activation and loss of HLA expression von Kundu, Kunal, Fiaschi, Nathalie, Wang, Wei, Kou, Baijun, Magen, Assaf, Hamon, Pauline, Gnjatic, Sacha, Schwartz, Myron, Kamphorst, Alice, Marron, Thomas, Merad, Miriam, Guo, Chunguang, Thurston, Gavin, Gupta, Namita, Cygan, Kamil

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Lessons from the CAGI‐4 Hopkins clinical panel challenge von Chandonia, John‐Marc, Adhikari, Aashish, Carraro, Marco, Chhibber, Aparna, Cutting, Garry R., Fu, Yao, Gasparini, Alessandra, Jones, David T., Kramer, Andreas, Kundu, Kunal, Lam, Hugo Y. K., Leonardi, Emanuela, Moult, John, Pal, Lipika R., Searls, David B., Shah, Sohela, Sunyaev, Shamil, Tosatto, Silvio C. E., Yin, Yizhou, Buckley, Bethany A.

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Working towards precision medicine: predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges von Daneshjou, Roxana, Wang, Yanran, Bromberg, Yana, Bovo, Samuele, Martelli, Pier L, Babbi, Giulia, Di Lena, Pietro, Casadio, Rita, Edwards, Matthew, Gifford, David, Jones, David T, Sundaram, Laksshman, Bhat, Rajendra, Li, Xiaolin, Pal, Lipika R., Kundu, Kunal, Yin, Yizhou, Moult, John, Jiang, Yuxiang, Pejaver, Vikas, Pagel, Kymberleigh A., Li, Biao, Mooney, Sean D., Radivojac, Predrag, Shah, Sohela, Carraro, Marco, Gasparini, Alessandra, Leonardi, Emanuela, Giollo, Manuel, Ferrari, Carlo, Tosatto, Silvio C E, Bachar, Eran, Azaria, Johnathan R., Ofran, Yanay, Unger, Ron, Niroula, Abhishek, Vihinen, Mauno, Chang, Billy, Wang, Maggie H, Franke, Andre, Petersen, Britt-Sabina, Pirooznia, Mehdi, Zandi, Peter, McCombie, Richard, Potash, James B, Altman, Russ, Klein, Teri E., Hoskins, Roger, Repo, Susanna, Brenner, Steve E, Morgan, Alexander A

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Nijmegen Breakage Syndrome Detected By Newborn Screening for T Cell Receptor Excision Circles (TRECs) von Patel, Jay, MD, Puck, Jennifer M., MD, Kundu, Kunal, Sunderam, Uma, Brown, Christina, Srinivasan, Rajgopal, Ph.D, Brenner, Steven E., Ph.D, Gatti, Richard A., MD, Church, Joseph A., MD, FAAAAI

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