Unsupervised pattern discovery in human chromatin structure through genomic segmentation von Hoffman, Michael M, Buske, Orion J, Wang, Jie, Weng, Zhiping, Bilmes, Jeff A, Noble, William Stafford

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Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging von Labrie, Viviane, Buske, Orion J, Oh, Edward, Jeremian, Richie, Ptak, Carolyn, Gasiūnas, Giedrius, Maleckas, Almantas, Petereit, Rūta, Žvirbliene, Aida, Adamonis, Kęstutis, Kriukienė, Edita, Koncevičius, Karolis, Gordevičius, Juozas, Nair, Akhil, Zhang, Aiping, Ebrahimi, Sasha, Oh, Gabriel, Šikšnys, Virginijus, Kupčinskas, Limas, Brudno, Michael, Petronis, Arturas

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The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles von Buske, Orion J., Schiettecatte, François, Hutton, Benjamin, Dumitriu, Sergiu, Misyura, Andriy, Huang, Lijia, Hartley, Taila, Girdea, Marta, Sobreira, Nara, Mungall, Chris, Brudno, Michael

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Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency von Bone, William P., Washington, Nicole L., Buske, Orion J., Adams, David R., Davis, Joie, Draper, David, Flynn, Elise D., Girdea, Marta, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Jacobsen, Julius, Köhler, Sebastian, Lee, Elizabeth M.J., Links, Amanda E., Markello, Thomas C., Mungall, Christopher J., Nehrebecky, Michele, Robinson, Peter N., Sincan, Murat, Soldatos, Ariane G., Tifft, Cynthia J., Toro, Camilo, Trang, Heather, Valkanas, Elise, Vasilevsky, Nicole, Wahl, Colleen, Wolfe, Lynne A., Boerkoel, Cornelius F., Brudno, Michael, Haendel, Melissa A., Gahl, William A., Smedley, Damian

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Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force von Nabbout, Rima, Zanello, Galliano, Baker, Dixie, Black, Lora, Brambilla, Isabella, Buske, Orion J, Conklin, Laurie S, Davies, Elin Haf, Julkowska, Daria, Kim, Yeonju, Klopstock, Thomas, Nakamura, Harumasa, Nielsen, Kim G, Pariser, Anne R, Pastor, Jose Carlos, Scarpa, Maurizio, Smith, Maureen, Taruscio, Domenica, Groft, Stephen

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Matchmaker Exchange von Sobreira, Nara L. M., Arachchi, Harindra, Buske, Orion J., Chong, Jessica X., Hutton, Ben, Foreman, Julia, Schiettecatte, François, Groza, Tudor, Jacobsen, Julius O.B., Haendel, Melissa A., Boycott, Kym M., Hamosh, Ada, Rehm, Heidi L.

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The Human Phenotype Ontology in 2017 von Köhler, Sebastian, Vasilevsky, Nicole A, Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M, Boerkoel, Cornelius F, Boycott, Kym M, Brudno, Michael, Buske, Orion J, Chinnery, Patrick F, Cipriani, Valentina, Connell, Laureen E, Dawkins, Hugh J S, DeMare, Laura E, Devereau, Andrew D, de Vries, Bert B A, Firth, Helen V, Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A, James, Roger, Krause, Roland, F Laulederkind, Stanley J, Lochmüller, Hanns, Lyon, Gholson J, Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H, Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H, Segal, Michael, Sergouniotis, Panagiotis I, Sever, Richard, Smith, Cynthia L, Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke W M, Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius O B, Groza, Tudor, Smedley, Damian, Mungall, Christopher J, Haendel, Melissa, Robinson, Peter N

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Next-generation diagnostics and disease-gene discovery with the Exomiser von Smedley, Damian, Jacobsen, Julius O B, Jäger, Marten, Köhler, Sebastian, Holtgrewe, Manuel, Schubach, Max, Siragusa, Enrico, Zemojtel, Tomasz, Buske, Orion J, Washington, Nicole L, Bone, William P, Haendel, Melissa A, Robinson, Peter N

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The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery von Philippakis, Anthony A., Azzariti, Danielle R., Beltran, Sergi, Brookes, Anthony J., Brownstein, Catherine A., Brudno, Michael, Brunner, Han G., Buske, Orion J., Carey, Knox, Doll, Cassie, Dumitriu, Sergiu, Dyke, Stephanie O.M., den Dunnen, Johan T., Firth, Helen V., Gibbs, Richard A., Girdea, Marta, Gonzalez, Michael, Haendel, Melissa A., Hamosh, Ada, Holm, Ingrid A., Huang, Lijia, Hurles, Matthew E., Hutton, Ben, Krier, Joel B., Misyura, Andriy, Mungall, Christopher J., Paschall, Justin, Paten, Benedict, Robinson, Peter N., Schiettecatte, François, Sobreira, Nara L., Swaminathan, Ganesh J., Taschner, Peter E., Terry, Sharon F., Washington, Nicole L., Züchner, Stephan, Boycott, Kym M., Rehm, Heidi L.

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The Genomedata format for storing large-scale functional genomics data von Hoffman, Michael M., Buske, Orion J., Noble, William Stafford

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Identification of deleterious synonymous variants in human genomes von Buske, Orion J, Manickaraj, AshokKumar, Mital, Seema, Ray, Peter N, Brudno, Michael

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The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases von Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández‐Callejo, Marcos, Garcia‐Linares, Carles, Hernandez‐Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó‐Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps‐Puchadas, Jordi, Paramonov, Ida, Trotta, Jean‐Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros‐Facer, Virginie, Buske, Orion J., Cañada‐Pallarés, Andrés, Fernández, José M., Hansson, Mats G., Horvath, Rita, Jacobsen, Julius O.B., Kaliyaperumal, Rajaram, Lair‐Préterre, Séverine, Licata, Luana, Lopes, Pedro, López‐Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez‐Jurado, Luis A., Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N., Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter A. C., Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G., Lochmüller, Hanns, Beltran, Sergi

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Exploratory analysis of genomic segmentations with Segtools von Buske, Orion J, Hoffman, Michael M, Ponts, Nadia, Le Roch, Karine G, Noble, William Stafford

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PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases von Buske, Orion J., Girdea, Marta, Dumitriu, Sergiu, Gallinger, Bailey, Hartley, Taila, Trang, Heather, Misyura, Andriy, Friedman, Tal, Beaulieu, Chandree, Bone, William P., Links, Amanda E., Washington, Nicole L., Haendel, Melissa A., Robinson, Peter N., Boerkoel, Cornelius F., Adams, David, Gahl, William A., Boycott, Kym M., Brudno, Michael

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Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada von Osmond, Matthew, Hartley, Taila, Dyment, David A., Kernohan, Kristin D., Brudno, Michael, Buske, Orion J., Innes, A. Micheil, Boycott, Kym M., Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara

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Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery von Driver, Hannah G., Hartley, Taila, Price, E. Magda, Turinsky, Andrei L., Buske, Orion J., Osmond, Matthew, Ramani, Arun K., Kirby, Emily, Kernohan, Kristin D., Couse, Madeline, Elrick, Hillary, Lu, Kevin, Mashouri, Pouria, Mohan, Aarthi, So, Delvin, Klamann, Conor, Le, Hannah G. B. H., Herscovich, Andrea, Marshall, Christian R., Statia, Andrew, Canada Consortium, Care4Rare, Knoppers, Bartha M., Brudno, Michael, Boycott, Kym M.

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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon von Delgado-Vega, Angelica Maria, Cederroth, Helene, Taylan, Fulya, Ekholm, Katja, Ek, Marlene, Thonberg, Håkan, Jemt, Anders, Nilsson, Daniel, Eisfeldt, Jesper, Bilgrav Saether, Kristine, Höijer, Ida, Akgun-Dogan, Ozlem, Asano, Yui, Barakat, Tahsin Stefan, Batkovskyte, Dominyka, Baynam, Gareth, Bodamer, Olaf, Chetruengchai, Wanna, Corcoran, Pádraic, Couse, Madeline, Danis, Daniel, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Groza, Tudor, Gunnarsson, Cecilia, Hammarsjö, Anna, Hammond, Charles Kumi, Hatirnaz Ng, Özden, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, Maria, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, Malin, Kvlividze, Oleg, Lagerstedt-Robinson, Kristina, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, Steven, Lim, Weng Khong, Liu, Zhandong, Lysenkova Wiklander, Mariya, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. Stephen, Neethiraj, Ramprasad, Nigro, Vincenzo, Nordgren, Felix, Nordlund, Jessica, Orrsjö, Sara, Ottosson, Jesper, Ozbek, Ugur, Özdemir, Özkan, Partin, Clyde, Pearce, David A., Peck, Raquel, Pettersson, Maria, Pongpanich, Monnat, Posada de la Paz, Manuel, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, Richard, Saw, Aung Min, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, Chalurmpon, Tapia-Paez, Isabel, Taruscio, Domenica, Taylor, Julie P., Tkemaladze, Tinatin, Tully, Ian, Tümer, Zeynep, van Zelst-Stams, Wendy A. G., Verloes, Alain, Västerviga, Emma, Wang, Sailan, Yang, Rachel, Yamamoto, Shinya, Yépez, Vicente A., Zhang, Qing, Shotelersuk, Vorasuk, Alanay, Yasemin, Botto, Lorenzo D., Kirmani, Salman, Lumaka, Aimé, Palmer, Elizabeth Emma, Puri, Ratna Dua, Wirta, Valtteri, Lindstrand, Anna, Buske, Orion J., Cederroth, Mikk, Nordgren, Ann

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Identification of deleterious synonymous variants in human genomes von Buske, Orion J, Manickaraj, AshokKumar, Mital, Seema, Ray, Peter N, Brudno, Michael

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Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics von Köhler, Sebastian, Øien, N. Christine, Buske, Orion J., Groza, Tudor, Jacobsen, Julius O. B., McNamara, Craig, Vasilevsky, Nicole, Carmody, Leigh C., Gourdine, J. P., Gargano, Michael, McMurry, Julie A., Danis, Daniel, Mungall, Christopher J., Smedley, Damian, Haendel, Melissa, Robinson, Peter N.

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The GA4GH Phenopacket schema defines a computable representation of clinical data von Jacobsen, Julius O B, Baudis, Michael, Baynam, Gareth S, Beckmann, Jacques S, Beltran, Sergi, Buske, Orion J

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