Ultrafast Comparison of Personal Genomes via Precomputed Genome Fingerprints

por Glusman, Gustavo, Mauldin, Denise E., Hood, Leroy E., Robinson, Max
Publicado 2017

Relationship Estimation from Whole-Genome Sequence Data

por Li, Hong, Glusman, Gustavo, Hu, Hao, Shankaracharya, Caballero, Juan, Hubley, Robert, Witherspoon, David, Guthery, Stephen L., Mauldin, Denise E., Jorde, Lynn B., Hood, Leroy, Roach, Jared C., Huff, Chad D.
Publicado 2014

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

por Glusman, Gustavo, Severson, Alissa, Dhankani, Varsha, Robinson, Max, Farrah, Terry, Mauldin, Denise E., Stittrich, Anna B., Ament, Seth A., Roach, Jared C., Brunkow, Mary E., Bodian, Dale L., Vockley, Joseph G., Shmulevich, Ilya, Niederhuber, John E., Hood, Leroy
Publicado 2015

Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals

por Stittrich, Anna B, Ashworth, Justin, Shi, Mude, Robinson, Max, Mauldin, Denise, Brunkow, Mary E, Biswas, Shameek, Kim, Jin-Man, Kwon, Ki-Sun, Jung, Jae U, Galas, David, Serikawa, Kyle, Duerr, Richard H, Guthery, Stephen L, Peschon, Jacques, Hood, Leroy, Roach, Jared C, Glusman, Gustavo
Publicado 2016

Genomic and molecular characterization of preterm birth

por Knijnenburg, Theo A., Vockley, Joseph G., Chambwe, Nyasha, Gibbs, David L., Humphries, Crystal, Huddleston, Kathi C., Klein, Elisabeth, Kothiyal, Prachi, Tasseff, Ryan, Dhankani, Varsha, Bodian, Dale L., Wong, Wendy S. W., Glusman, Gustavo, Mauldin, Denise E., Miller, Michael, Slagel, Joseph, Elasady, Summer, Roach, Jared C., Kramer, Roger, Leinonen, Kalle, Linthorst, Jasper, Baveja, Rajiv, Baker, Robin, Solomon, Benjamin D., Eley, Greg, Iyer, Ramaswamy K., Maxwell, George L., Bernard, Brady, Shmulevich, Ilya, Hood, Leroy, Niederhuber, John E.
Publicado 2019

Progress toward a universal biomedical data translator

por Fecho, Karamarie, Thessen, Anne E., Baranzini, Sergio E., Bizon, Chris, Hadlock, Jennifer J., Huang, Sui, Roper, Ryan T., Southall, Noel, Ta, Casey, Watkins, Paul B., Williams, Mark D., Xu, Hao, Byrd, William, Dančík, Vlado, Duby, Marc P., Dumontier, Michel, Glusman, Gustavo, Harris, Nomi L., Hinderer, Eugene W., Hyde, Greg, Johs, Adam, Su, Andrew I., Qin, Guangrong, Zhu, Qian, Dougherty, Jennifer, Huang, Conrad, Magis, Andrew, Smith, Brett, Celebi, Remzi, Chen, Zhehuan, Azevedo, Ricardo De Miranda, Emonet, Vincent, Lee, Jay, Weng, Chunhua, Yilmaz, Arif, Kim, Keum Joo, Santos, Eugene, Tonstad, Lucas, Veenhuis, Luke, Yakaboski, Chase, Acevedo, Liliana, Carrell, Steven, Deutsch, Eric, Glen, Amy, Hoffman, Andrew, Koslicki, David, Kvarfordt, Lindsey, Liu, Zheng, Liu, Shaopeng, Ma, Chunyu, Mendoza, Luis, Muluka, Arun Teja, Womack, Finn, Wood, Erica, Roach, Jared, Goel, Prateek, Weber, Rosina, Williams, Andrew, Gormley, Joseph, Zisk, Tom, Hanspers, Kristina, Hoatlin, Maureen, Pico, Alexander, Riutta, Anders, Callaghan, Jackson, Xu, Colleen, Ahalt, Stanley C., Balhoff, Jim, Edwards, Stephen, Haaland, Perry, Knowles, Michael, Krishnamurthy, Ashok, Mandal, Meisha, Peden, David B., Pfaff, Emily, Schurman, Shepherd, Shrivastava, Shalki, Yi, Hong, Reilly, Jason, Kanwar, Richa, Cox, Steven, Vaidya, Gaurav, Wang, Max, Alkanaq, Ahmed, Costanzo, Maria, Koesterer, Ryan, Flannick, Jason, Burtt, Noel, Kluge, Alexandria, Rubin, Irit, Strasser, Michael “ Michi”, Chung, Lawrence, Kang, Jimin, Mantilla, Michelle, Muller, Sandrine, Persaud, Bria, Wei, Qi, Baumgartner, Andrew, Dai, Cheng, Duvvuri, Venkata, Mauldin, Denise, Shmulevich, Ilya, Brandon, Namdi, Greyber, Alon, Kebede, Yaphet, Korn, Daniel, Mesbah, Abrar, Owen, Phil, Sakaguchi, Rayn, Seitanakis, Sarah, Tropsha, Alexander, Viola, Adam, Hubal, Robert, Mersmann, Marian, Morton, Kenny, Yao, Yao, Lin, Jason, Avila, Ricardo, Wu, Chunlei, Cano, Marco Alvarado, Gardner, Vicki, Issabekova, Tursynay, McMurry, Julie, Schaper, Kevin, Baumgartner, William, Cohen, Kevin, Gatica, Edgar, Hunter, Lawrence, Price, Guthrie, He, Kaiwen, Henrickson, Jeff, Mamidi, Tarun, Might, Matthew, Osborne, John, Patton, Michael, Rosenblatt, Greg, Tran‐Nguyen, Thi, Crouse, Andrew, Belhu, Basazin, Conlin, Tom, Huellas‐Bruskiewicz, Kenneth, Rudavsky‐Brody, Nathaniel, Shrestha, Manil, Stillwell, Lisa, von Grotthuss, Marcin, Wang, Patrick, Xin, Jiwen Kevin, Zhou, Xinghua, Champion, James, Scott, Erik, Sharma, Priya, Sinha, Meghamala, Raj, Shruti, Mease, Philip, Peene, R. Carter, McClelland, Jason, Schmitt, Charles P., Leigh, Margaret, Corkill, Dan, Zhou, Eric, Alden, John, Massung, Jeffrey, Brandes, Mac Kenzie, Amin, Nada, Chen, Mei‐Jan, Crowder, Camerron, Crumbley, Mary E., Fehrmann, Nathaniel, Foksinska, Aleksandra M., Jenkins, Lindsay, He, Kaiwen, Huls, Forest B., Jarrell, Matthew, Pollard, Elizabeth, Rucka, Sienna, Southern, Nicholas, Tinglin, Jillian, Whitlock, Jordan, Zheng, Marissa
Publicado 2022

Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science

por Unni, Deepak R., Moxon, Sierra A. T., Bada, Michael, Brush, Matthew, Bruskiewich, Richard, Caufield, J. Harry, Clemons, Paul A., Dancik, Vlado, Dumontier, Michel, Fecho, Karamarie, Glusman, Gustavo, Hadlock, Jennifer J., Harris, Nomi L., Joshi, Arpita, Putman, Tim, Qin, Guangrong, Ramsey, Stephen A., Shefchek, Kent A., Solbrig, Harold, Soman, Karthik, Thessen, Anne E., Haendel, Melissa A., Bizon, Chris, Mungall, Christopher J., Acevedo, Liliana, Ahalt, Stanley C., Alden, John, Alkanaq, Ahmed, Amin, Nada, Avila, Ricardo, Balhoff, Jim, Baranzini, Sergio E., Baumgartner, Andrew, Baumgartner, William, Belhu, Basazin, Brandes, MacKenzie, Brandon, Namdi, Burtt, Noel, Byrd, William, Callaghan, Jackson, Cano, Marco Alvarado, Carrell, Steven, Celebi, Remzi, Champion, James, Chen, Zhehuan, Chen, Mei‐Jan, Chung, Lawrence, Cohen, Kevin, Conlin, Tom, Corkill, Dan, Costanzo, Maria, Cox, Steven, Crouse, Andrew, Crowder, Camerron, Crumbley, Mary E., Dai, Cheng, Dančík, Vlado, De Miranda Azevedo, Ricardo, Deutsch, Eric, Dougherty, Jennifer, Duby, Marc P., Duvvuri, Venkata, Edwards, Stephen, Emonet, Vincent, Fehrmann, Nathaniel, Flannick, Jason, Foksinska, Aleksandra M., Gardner, Vicki, Gatica, Edgar, Glen, Amy, Goel, Prateek, Gormley, Joseph, Greyber, Alon, Haaland, Perry, Hanspers, Kristina, He, Kaiwen, He, Kaiwen, Henrickson, Jeff, Hinderer, Eugene W., Hoatlin, Maureen, Hoffman, Andrew, Huang, Sui, Huang, Conrad, Hubal, Robert, Huellas‐Bruskiewicz, Kenneth, Huls, Forest B., Hunter, Lawrence, Hyde, Greg, Issabekova, Tursynay, Jarrell, Matthew, Jenkins, Lindsay, Johs, Adam, Kang, Jimin, Kanwar, Richa, Kebede, Yaphet, Kim, Keum Joo, Kluge, Alexandria, Knowles, Michael, Koesterer, Ryan, Korn, Daniel, Koslicki, David, Krishnamurthy, Ashok, Kvarfordt, Lindsey, Lee, Jay, Leigh, Margaret, Lin, Jason, Liu, Zheng, Liu, Shaopeng, Ma, Chunyu, Magis, Andrew, Mamidi, Tarun, Mandal, Meisha, Mantilla, Michelle, Massung, Jeffrey, Mauldin, Denise, McClelland, Jason, McMurry, Julie, Mease, Philip, Mendoza, Luis, Mersmann, Marian, Mesbah, Abrar, Might, Matthew, Morton, Kenny, Muller, Sandrine, Muluka, Arun Teja, Osborne, John, Owen, Phil, Patton, Michael, Peden, David B., Peene, R. Carter, Persaud, Bria, Pfaff, Emily, Pico, Alexander, Pollard, Elizabeth, Price, Guthrie, Raj, Shruti, Reilly, Jason, Riutta, Anders, Roach, Jared, Roper, Ryan T., Rosenblatt, Greg, Rubin, Irit, Rucka, Sienna, Rudavsky‐Brody, Nathaniel, Sakaguchi, Rayn, Santos, Eugene, Schaper, Kevin, Schmitt, Charles P., Schurman, Shepherd, Scott, Erik, Seitanakis, Sarah, Sharma, Priya, Shmulevich, Ilya, Shrestha, Manil, Shrivastava, Shalki, Sinha, Meghamala, Smith, Brett, Southall, Noel, Southern, Nicholas, Stillwell, Lisa, Strasser, Michael " Michi", Su, Andrew I., Ta, Casey, Thessen, Anne E., Tinglin, Jillian, Tonstad, Lucas, Tran‐Nguyen, Thi, Tropsha, Alexander, Vaidya, Gaurav, Veenhuis, Luke, Viola, Adam, von Grotthuss, Marcin, Wang, Max, Wang, Patrick, Watkins, Paul B., Weber, Rosina, Wei, Qi, Weng, Chunhua, Whitlock, Jordan, Williams, Mark D., Williams, Andrew, Womack, Finn, Wood, Erica, Wu, Chunlei, Xin, Jiwen Kevin, Xu, Hao, Xu, Colleen, Yakaboski, Chase, Yao, Yao, Yi, Hong, Yilmaz, Arif, Zheng, Marissa, Zhou, Xinghua, Zhou, Eric, Zhu, Qian, Zisk, Tom
Publicado 2022

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

por Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Publicado 2014