Sökresultat - Pagel, Kymberleigh

Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models av Jiang, Yuxiang, Urresti, Jorge, Pagel, Kymberleigh A., Pramod, Akula Bala, Iakoucheva, Lilia M., Radivojac, Predrag

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Integrated Informatics Analysis of Cancer-Related Variants av Pagel, Kymberleigh A., Kim, Rick, Moad, Kyle, Busby, Ben, Zheng, Lily, Tokheim, Collin, Ryan, Michael, Karchin, Rachel

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The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease av Lugo-Martinez, Jose, Pejaver, Vikas, Pagel, Kymberleigh A., Jain, Shantanu, Mort, Matthew, Cooper, David N., Mooney, Sean D., Radivojac, Predrag

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The sequencing and interpretation of the genome obtained from a Serbian individual av Mohammed Ismail, Wazim, Pagel, Kymberleigh A., Pejaver, Vikas, Zhang, Simo V., Casasa, Sofia, Mort, Matthew, Cooper, David N., Hahn, Matthew W., Radivojac, Predrag

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Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome av Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag

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When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants av Pagel, Kymberleigh A, Pejaver, Vikas, Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N, Sebat, Jonathan, Iakoucheva, Lilia M, Mooney, Sean D, Radivojac, Predrag

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Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 av Pejaver, Vikas, Urresti, Jorge, Lugo-Martinez, Jose, Pagel, Kymberleigh A., Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag

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High-throughput prediction of MHC class I and class II neoantigens with MHCnuggets av Shao, Xiaoshan M., Bhattacharya, Rohit, Huang, Justin, Sivakumar, I.K. Ashok, Tokheim, Collin, Zheng, Lily, Hirsch, Dylan, Kaminow, Benjamin, Omdahl, Ashton, Bonsack, Maria, Riemer, Angelika B., Velculescu, Victor E., Anagnostou, Valsamo, Pagel, Kymberleigh A., Karchin, Rachel

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Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges av McInnes, Gregory, Daneshjou, Roxana, Katsonis, Panagiostis, Lichtarge, Olivier, Srinivasan, Raj Gopal, Rana, Sadhna, Radivojac, Predrag, Mooney, Sean D, Pagel, Kymberleigh A, Stamboulian, Moses, Jiang, Yuxiang, Capriotti, Emidio, Wang, Yanran, Bromberg, Yana, Bovo, Samuele, Savojardo, Castrense, Martelli, Pier Luigi, Casadio, Rita, Pal, Lipika R., Moult, John, Brenner, Steven, Altman, Russ

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Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge av 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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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants av Cline, Melissa S., Babbi, Giulia, Bonache, Sandra, Cao, Yue, Casadio, Rita, de la Cruz, Xavier, Díez, Orland, Gutiérrez-Enríquez, Sara, Katsonis, Panagiotis, Lai, Carmen, Lichtarge, Olivier, Martelli, Pier Luigi, Mishne, Gilad, Moles-Fernández, Alejandro, Montalban, Gemma, Mooney, Sean D., O’Conner, Robert, Ootes, Lars, Özkan, Selen, Padilla, Natalia, Pagel, Kymberleigh A., Pejaver, Vikas, Radivojac, Predrag, Riera, Casandra, Savojardo, Castrense, Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T., Spurdle, Amanda B., Goldgar, David E.

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Working towards precision medicine: predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges av 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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