Multiplexed assays of variant effects contribute to a growing genotype–phenotype atlas

por Weile, Jochen, Roth, Frederick P.
Publicado 2018

Integrative pathway dissection of molecular mechanisms of moxLDL-induced vascular smooth muscle phenotype transformation

por Karagiannis, George S, Weile, Jochen, Bader, Gary D, Minta, Joe
Publicado 2013

Improved pathogenicity prediction for rare human missense variants

por Wu, Yingzhou, Li, Roujia, Sun, Song, Weile, Jochen, Roth, Frederick P.
Publicado 2021

Improved pathogenicity prediction for rare human missense variants

por Wu, Yingzhou, Liu, Hanqing, Li, Roujia, Sun, Song, Weile, Jochen, Roth, Frederick P.
Publicado 2021

MaveQuest: a web resource for planning experimental tests of human variant effects

por Kuang, Da, Weile, Jochen, Li, Roujia, Ouellette, Tom W, Barber, Jarry A, Roth, Frederick P
Publicado 2020

Bayesian integration of networks without gold standards

por Weile, Jochen, James, Katherine, Hallinan, Jennifer, Cockell, Simon J., Lord, Phillip, Wipat, Anil, Wilkinson, Darren J.
Publicado 2012

A web application and service for imputing and visualizing missense variant effect maps

por Wu, Yingzhou, Weile, Jochen, Cote, Atina G, Sun, Song, Knapp, Jennifer, Verby, Marta, Roth, Frederick P
Publicado 2019

Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries

por Weile, Jochen, Cote, Atina G., Kishore, Nishka, Tabet, Daniel, van Loggerenberg, Warren, Rayhan, Ashyad, Roth, Frederick P
Publicado 2023

Prioritizing genes for systematic variant effect mapping

por Kuang, Da, Truty, Rebecca, Weile, Jochen, Johnson, Britt, Nykamp, Keith, Araya, Carlos, Nussbaum, Robert L, Roth, Frederick P
Publicado 2020

MaveRegistry: a collaboration platform for multiplexed assays of variant effect

por Kuang, Da, Weile, Jochen, Kishore, Nishka, Nguyen, Maria, Rubin, Alan F, Fields, Stanley, Fowler, Douglas M, Roth, Frederick P
Publicado 2021

MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect

por Esposito, Daniel, Weile, Jochen, Shendure, Jay, Starita, Lea M., Papenfuss, Anthony T., Roth, Frederick P., Fowler, Douglas M., Rubin, Alan F.
Publicado 2019

Customizable views on semantically integrated networks for systems biology

por Weile, Jochen, Pocock, Matthew, Cockell, Simon J., Lord, Phillip, Dewar, James M., Holstein, Eva−Maria, Wilkinson, Darren, Lydall, David, Hallinan, Jennifer, Wipat, Anil
Publicado 2011

CoryneCenter – An online resource for the integrated analysis of corynebacterial genome and transcriptome data

por Neuweger, Heiko, Baumbach, Jan, Albaum, Stefan, Bekel, Thomas, Dondrup, Michael, Hüser, Andrea T, Kalinowski, Jörn, Oehm, Sebastian, Pühler, Alfred, Rahmann, Sven, Weile, Jochen, Goesmann, Alexander
Publicado 2007

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

por Sun, Song, Weile, Jochen, Verby, Marta, Wu, Yingzhou, Wang, Yang, Cote, Atina G., Fotiadou, Iosifina, Kitaygorodsky, Julia, Vidal, Marc, Rine, Jasper, Ješina, Pavel, Kožich, Viktor, Roth, Frederick P.
Publicado 2020

A comprehensive map of human glucokinase variant activity

por Gersing, Sarah, Cagiada, Matteo, Gebbia, Marinella, Gjesing, Anette P., Coté, Atina G., Seesankar, Gireesh, Li, Roujia, Tabet, Daniel, Weile, Jochen, Stein, Amelie, Gloyn, Anna L., Hansen, Torben, Roth, Frederick P., Lindorff-Larsen, Kresten, Hartmann-Petersen, Rasmus
Publicado 2023

Shifting landscapes of human MTHFR missense-variant effects

por Weile, Jochen, Kishore, Nishka, Sun, Song, Maaieh, Ranim, Verby, Marta, Li, Roujia, Fotiadou, Iosifina, Kitaygorodsky, Julia, Wu, Yingzhou, Holenstein, Alexander, Bürer, Céline, Blomgren, Linnea, Yang, Shan, Nussbaum, Robert, Rozen, Rima, Watkins, David, Gebbia, Marinella, Kozich, Viktor, Garton, Michael, Froese, D. Sean, Roth, Frederick P.
Publicado 2021

Systematic analysis of bypass suppression of essential genes

por van Leeuwen, Jolanda, Pons, Carles, Tan, Guihong, Wang, Jason Zi, Hou, Jing, Weile, Jochen, Gebbia, Marinella, Liang, Wendy, Shuteriqi, Ermira, Li, Zhijian, Lopes, Maykel, Ušaj, Matej, Dos Santos Lopes, Andreia, van Lieshout, Natascha, Myers, Chad L, Roth, Frederick P, Aloy, Patrick, Andrews, Brenda J, Boone, Charles
Publicado 2020

A framework for exhaustively mapping functional missense variants

por Weile, Jochen, Sun, Song, Cote, Atina G, Knapp, Jennifer, Verby, Marta, Mellor, Joseph C, Wu, Yingzhou, Pons, Carles, Wong, Cassandra, van Lieshout, Natascha, Yang, Fan, Tasan, Murat, Tan, Guihong, Yang, Shan, Fowler, Douglas M, Nussbaum, Robert, Bloom, Jesse D, Vidal, Marc, Hill, David E, Aloy, Patrick, Roth, Frederick P
Publicado 2017

Mapping DNA damage‐dependent genetic interactions in yeast via party mating and barcode fusion genetics

por Díaz‐Mejía, J Javier, Celaj, Albi, Mellor, Joseph C, Coté, Atina, Balint, Attila, Ho, Brandon, Bansal, Pritpal, Shaeri, Fatemeh, Gebbia, Marinella, Weile, Jochen, Verby, Marta, Karkhanina, Anna, Zhang, YiFan, Wong, Cassandra, Rich, Justin, Prendergast, D'Arcy, Gupta, Gaurav, Öztürk, Sedide, Durocher, Daniel, Brown, Grant W, Roth, Frederick P
Publicado 2018

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

por van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Sheykhkarimli, Dayag, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C.H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K., Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Publicado 2023