Single subject transcriptome analysis to identify functionally signed gene set or pathway activity

por Berghout, Joanne, Li, Qike, Pouladi, Nima, Li, Jianrong, Lussier, Yves A.
Publicado 2018

Developing a ‘personalome’ for precision medicine: emerging methods that compute interpretable effect sizes from single-subject transcriptomes

por Vitali, Francesca, Li, Qike, Schissler, A Grant, Berghout, Joanne, Kenost, Colleen, Lussier, Yves A
Publicado 2017

Precision drug repurposing via convergent eQTL-based molecules and pathway targeting independent disease-associated polymorphisms

por Vitali, Francesca, Berghout, Joanne, Fan, Jungwei, Li, Jianrong, Li, Qike, Li, Haiquan, Lussier, Yves A.
Publicado 2019

Evaluating single-subject study methods for personal transcriptomic interpretations to advance precision medicine

por Rachid Zaim, Samir, Kenost, Colleen, Berghout, Joanne, Vitali, Francesca, Zhang, Helen Hao, Lussier, Yves A.
Publicado 2019

Irf8-Regulated Genomic Responses Drive Pathological Inflammation during Cerebral Malaria

por Berghout, Joanne, Langlais, David, Radovanovic, Irena, Tam, Mifong, MacMicking, John D., Stevenson, Mary M., Gros, Philippe
Publicado 2013

binomialRF: interpretable combinatoric efficiency of random forests to identify biomarker interactions

por Rachid Zaim, Samir, Kenost, Colleen, Berghout, Joanne, Chiu, Wesley, Wilson, Liam, Zhang, Hao Helen, Lussier, Yves A.
Publicado 2020

Correction to: binomialRF: interpretable combinatoric efficiency of random forests to identify biomarker interactions

por Zaim, Samir Rachid, Kenost, Colleen, Berghout, Joanne, Chiu, Wesley, Wilson, Liam, Zhang, Hao Helen, Lussier, Yves A.
Publicado 2020

‘Single-subject studies’-derived analyses unveil altered biomechanisms between very small cohorts: implications for rare diseases

por Aberasturi, Dillon, Pouladi, Nima, Zaim, Samir Rachid, Kenost, Colleen, Berghout, Joanne, Piegorsch, Walter W, Lussier, Yves A
Publicado 2021

N-of-1-pathways MixEnrich: advancing precision medicine via single-subject analysis in discovering dynamic changes of transcriptomes

por Li, Qike, Schissler, A. Grant, Gardeux, Vincent, Achour, Ikbel, Kenost, Colleen, Berghout, Joanne, Li, Haiquan, Zhang, Hao Helen, Lussier, Yves A.
Publicado 2017

2888. STAT4 Mutation in Three Generations with Disseminated Coccidioidomycosis (DCM) also Exhibits Increased Susceptibility to Coccidioidal Infection in Transfected Mice

por Powell, Daniel A, Shubitz, Lisa F, Hsu, Amy, Davis, Joie, Holland, Steven M, Berghout, Joanne, Lussier, Yves A, Frelinger, Jeffrey A, Galgiani, John N
Publicado 2019

Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions

por Li, Haiquan, Achour, Ikbel, Bastarache, Lisa, Berghout, Joanne, Gardeux, Vincent, Li, Jianrong, Lee, Younghee, Pesce, Lorenzo, Yang, Xinan, Ramos, Kenneth S, Foster, Ian, Denny, Joshua C, Moore, Jason H, Lussier, Yves A
Publicado 2016

CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation

por Kennedy, James M., Fodil, Nassima, Torre, Sabrina, Bongfen, Silayuv E., Olivier, Jean-Frédéric, Leung, Vicki, Langlais, David, Meunier, Charles, Berghout, Joanne, Langat, Pinky, Schwartzentruber, Jeremy, Majewski, Jacek, Lathrop, Mark, Vidal, Silvia M., Gros, Philippe
Publicado 2014

A genome-by-environment interaction classifier for precision medicine: personal transcriptome response to rhinovirus identifies children prone to asthma exacerbations

por Gardeux, Vincent, Berghout, Joanne, Achour, Ikbel, Schissler, A Grant, Li, Qike, Kenost, Colleen, Li, Jianrong, Shang, Yuan, Bosco, Anthony, Saner, Donald, Halonen, Marilyn J, Jackson, Daniel J, Li, Haiquan, Martinez, Fernando D, Lussier, Yves A
Publicado 2017

Novel disease syndromes unveiled by integrative multiscale network analysis of diseases sharing molecular effectors and comorbidities

por Li, Haiquan, Fan, Jungwei, Vitali, Francesca, Berghout, Joanne, Aberasturi, Dillon, Li, Jianrong, Wilson, Liam, Chiu, Wesley, Pumarejo, Minsu, Han, Jiali, Kenost, Colleen, Koripella, Pradeep C., Pouladi, Nima, Billheimer, Dean, Bedrick, Edward J., Lussier, Yves A.
Publicado 2018

C5 deficiency and C5a or C5aR blockade protects against cerebral malaria

por Patel, Samir N., Berghout, Joanne, Lovegrove, Fiona E., Ayi, Kodjo, Conroy, Andrea, Serghides, Lena, Min-oo, Gundula, Gowda, D. Channe, Sarma, J. Vidya, Rittirsch, Daniel, Ward, Peter A., Liles, W. Conrad, Gros, Philippe, Kain, Kevin C.
Publicado 2008

An N-Ethyl-N-Nitrosourea (ENU)-Induced Dominant Negative Mutation in the JAK3 Kinase Protects against Cerebral Malaria

por Bongfen, Silayuv E., Rodrigue-Gervais, Ian-Gael, Berghout, Joanne, Torre, Sabrina, Cingolani, Pablo, Wiltshire, Sean A., Leiva-Torres, Gabriel A., Letourneau, Louis, Sladek, Robert, Blanchette, Mathieu, Lathrop, Mark, Behr, Marcel A., Gruenheid, Samantha, Vidal, Silvia M., Saleh, Maya, Gros, Philippe
Publicado 2012

The mouse Gene Expression Database (GXD): 2014 update

por Smith, Constance M., Finger, Jacqueline H., Hayamizu, Terry F., McCright, Ingeborg J., Xu, Jingxia, Berghout, Joanne, Campbell, Jeff, Corbani, Lori E., Forthofer, Kim L., Frost, Pete J., Miers, Dave, Shaw, David R., Stone, Kevin R., Eppig, Janan T., Kadin, James A., Richardson, Joel E., Ringwald, Martin
Publicado 2014

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

por Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda, Ferlini, Alessandra
Publicado 2023

Analysis of protein-coding genetic variation in 60,706 humans

por Lek, Monkol, Karczewski, Konrad J, Minikel, Eric V, Samocha, Kaitlin E, Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H, Ware, James S, Hill, Andrew J, Cummings, Beryl B, Tukiainen, Taru, Birnbaum, Daniel P, Kosmicki, Jack A, Duncan, Laramie E, Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N, Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I, Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M, Poplin, Ryan, Rivas, Manuel A, Ruano-Rubio, Valentin, Rose, Samuel A, Ruderfer, Douglas M, Shakir, Khalid, Stenson, Peter D, Stevens, Christine, Thomas, Brett P, Tiao, Grace, Tusie-Luna, Maria T, Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M, Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C, Gabriel, Stacey B, Getz, Gad, Glatt, Stephen J, Hultman, Christina M, Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I, McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M, Palotie, Aarno, Purcell, Shaun M, Saleheen, Danish, Scharf, Jeremiah M, Sklar, Pamela, Sullivan, Patrick F, Tuomilehto, Jaakko, Tsuang, Ming T, Watkins, Hugh C, Wilson, James G, Daly, Mark J, MacArthur, Daniel G
Publicado 2016