Integrated Informatics Analysis of Cancer-Related Variants

Por Pagel, Kymberleigh A., Kim, Rick, Moad, Kyle, Busby, Ben, Zheng, Lily, Tokheim, Collin, Ryan, Michael, Karchin, Rachel
Publicado no JCO Clin Cancer Inform (2020)

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease

Por Lugo-Martinez, Jose, Pejaver, Vikas, Pagel, Kymberleigh A., Jain, Shantanu, Mort, Matthew, Cooper, David N., Mooney, Sean D., Radivojac, Predrag
Publicado no PLoS Comput Biol (2016)

The sequencing and interpretation of the genome obtained from a Serbian individual

Por Mohammed Ismail, Wazim, Pagel, Kymberleigh A., Pejaver, Vikas, Zhang, Simo V., Casasa, Sofia, Mort, Matthew, Cooper, David N., Hahn, Matthew W., Radivojac, Predrag
Publicado no PLoS One (2018)

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

Por Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag
Publicado no PLoS Comput Biol (2019)

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants

Por 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
Publicado no Bioinformatics (2017)

High-throughput prediction of MHC class I and class II neoantigens with MHCnuggets

Por 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
Publicado no Cancer Immunol Res (2019)

Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

Por 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
Publicado no Hum Mutat (2019)

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

Por 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.
Publicado no Hum Mutat (2019)

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

Por 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
Publicado no Hum Mutat (2017)