Results 51 to 60 of about 1,170,509 (350)
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale
Nature Genetics, 2020 Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests have limited scope to leverage variant functions.Xihao Li, Zilin Li, Hufeng Zhou, S. Gaynor, Yaowu Liu, Han Chen, Ryan Sun, Rounak Dey, D. Arnett, S. Aslibekyan, Christie M. Ballantyne, L. Bielak, J. Blangero, E. Boerwinkle, D. Bowden, J. Broome, M. Conomos, Adolfo Correa, L. A. Cupples, J. Curran, B. Freedman, Xiuqing Guo, G. Hindy, M. Irvin, S. Kardia, S. Kathiresan, Alyna T Khan, C. Kooperberg, Cathy C. Laurie, X. S. Liu, M. Mahaney, A. Manichaikul, Lisa W. Martin, R. Mathias, S. McGarvey, B. Mitchell, M. Montasser, Jill E. Moore, A. Morrison, J. O’Connell, Nicholette D. Palmer, A. Pampana, J. Peralta, P. Peyser, B. Psaty, S. Redline, Kenneth M. Rice, S. Rich, Jennifer A. Smith, H. Tiwari, M. Tsai, Ramachandran S. Vasan, Fei Fei Wang, D. Weeks, Z. Weng, James G. Wilson, Lisa R. Yanek, Namiko Gonçalo R. Francois Christine Laura Alvaro Seth Pe Abe Abecasis Aguet Albert Almasy Alonso Ament Ande, Namiko Abe, Gonçalo R. Abecasis, F. Aguet, Christine Albert, L. Almasy, Álvaro Alonso, S. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum-Bowden, K. Ardlie, D. Arking, Allison Ashley-Koch, T. Assimes, Paul W. Auer, D. Avramopoulos, J. Barnard, K. Barnes, R. Barr, E. Barron-Casella, L. Barwick, Terri L Beaty, Gerald Beck, D. Becker, L. Becker, Rebecca Beer, A. Beitelshees, E. Benjamin, Takis Benos, Marcos Bezerra, Joshua Bis, Thomas Blackwell, J. Blangero, R. Bowler, J. Brody, U. Broeckel, J. Broome, Karen L. Bunting, E. Burchard, Carlos Bustamante, Erin Buth, B. Cade, J. Cardwell, V. Carey, C. Carty, R. Casaburi, James M. Casella, P. Castaldi, M. Chaffin, Christy Chang, Yi-Cheng Chang, D. Chasman, S. Chavan, Bo-Juen Chen, Wei-Min Chen, Y. Chen, Michael Cho, S. Choi, L. Chuang, M. Chung, R. Chung, C. Clish, S. Comhair, M. Conomos, E. Cornell, Adolfo Correa, Carolyn Crandall, J. Crapo, L. A. Cupples, J. Curtis, B. Custer, C. Damcott, D. Darbar, Sayantan Das, S. David, Colleen Davis, M. Daya, M. de Andrade, L. Fuentes, Michael R. DeBaun, R. Deka, D. Demeo, S. Devine, Qing Duan, R. Duggirala, J. P. Durda, S. Dutcher, Charles B. Eaton, L. Ekunwe, A. El Boueiz, P. Ellinor, L. Emery, S. Erzurum, Charles Farber, T. Fingerlin, M. Flickinger, M. Fornage, N. Franceschini, C. Frazar, Mao Fu, Stephanie M. Fullerton, L. Fulton, S. Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, M. Gass, B. Gelb, X. Geng, M. Geraci, S. Germer, R. Gerszten, Auyon J. Ghosh, R. Gibbs, Christopher R. Gignoux, M. Gladwin, D. Glahn, S. Gogarten, D. Gong, H. Goring, S. Graw, Daniel Grine, C. Gu, Y. Guan, N. Gupta, J. Haessler, Michael Hall, Daniel Harris, N. Hawley, Jiang He, S. Heckbert, Ryan D. Hernandez, D. Herrington, C. Hersh, Bertha A. Hidalgo, J. Hixson, B. Hobbs, J. Hokanson, Elliott Hong, Karin Hoth, C. Hsiung, Y. Hung, H. Huston, C. Hwu, R. Jackson, D. Jain, C. Jaquish, Min A. Jhun, J. Johnsen, Andrew D. Johnson, Craig Johnson, R. Johnston, Kimberly Jones, H. Kang, R. Kaplan, Shannon Kelly, E. Kenny, Michael D. Kessler, Wonji Kim, G. Kinney, B. Konkle, H. Kramer, C. Lange, E. Lange, L. Lange, C. Laurie, M. LeBoff, Jiwon Lee, Seunggeun Lee, Wen-Jane Lee, J. Lefaive, David Levine, D. Levy, J. Lewis, Xiaohui Li, Yun Li, Henry J. Lin, Honghuang Lin, Keng-Han Lin, Xihong Lin, Simin Liu, Yongmei Liu, Yu Liu, R. Loos, S. Lubitz, K. Lunetta, James Luo, B. Make, J. Manson, L. Margolin, Lisa W. Martin, S. Mathai, Susanne May, P. McArdle, Merry-Lynn N. McDonald, Sean McFarland, Daniel McGoldrick, Caitlin P. McHugh, H. Mei, L. Mestroni, D. Meyers, Julie Mikulla, N. Min, Mollie A Minear, R. Minster, M. Moll, C. Montgomery, A. Moscati, S. Musani, Stanford E. Mwasongwe, J. Mychaleckyj, Girish N. Nadkarni, Rakhi Naik, T. Naseri, Pradeep Natarajan, S. Nekhai, Sarah C. Nelson, Bonnie Neltner, D. Nickerson, Kari North, T. O'Connor, H. Ochs-Balcom, David T. Paik, Nicholette D. Palmer, J. Pankow, G. Papanicolaou, A. Parsa, J. Peralta, Marco V. Perez, James Perry, U. Peters, P. Peyser, Lawrence S. Phillips, T. Pollin, W. Post, Julia Powers Becker, M. Boorgula, Michael H. Preuss, P. Qasba, D. Qiao, Zhaohui Qin, N. Rafaels, L. Raffield, Ramachandran S. Vasan, D. Rao, L. Rasmussen-Torvik, A. Ratan, Robert Reed, E. Regan, A. Reiner, M. Reupena, Kenneth M. Rice, S. Rich, D. Roden, C. Roselli, Jerome I. Rotter, I. Ruczinski, Pamela H. Russell, S. Ruuska, K. Ryan, E. Sabino, D. Saleheen, S. Salimi, S. Salzberg, Kevin Sandow, V. Sankaran, Christopher Scheller, Ellen M. Schmidt, K. Schwander, D. Schwartz, F. Sciurba, C. Seidman, J. Seidman, V. Sheehan, S. Sherman, Amol Shetty, Aniket Shetty, W. Sheu, M. B. Shoemaker, Brian Silver, E. Silverman, Jennifer A. Smith, Josh Smith, N. Smith, Tanja Smith, S. Smoller, B. Snively, M. Snyder, T. Sofer, N. Sotoodehnia, A. Stilp, G. Storm, E. Streeten, J. Su, Y. Sung, Jody Sylvia, Adam A. Szpiro, C. Sztalryd, D. Taliun, Hua Tang, M. Taub, K. Taylor, M. Taylor, Simeon I. Taylor, M. Telen, T. Thornton, M. Threlkeld, Lesley Tinker, D. Tirschwell, S. Tishkoff, Catherine Tong, R. Tracy, Dhananjay Vaidya, D. J. Van Den Berg, Peter Vandehaar, S. Vrieze, Tarik Walker, R. Wallace, A. Walts, Heming Wang, K. Watson, D. Weeks, Bruce Weir, Scott T. Weiss, L. Weng, J. Wessel, Cristen J. Willer, Kayleen Williams, L. Williams, C. Wilson, Q. Wong, Joseph C. Wu, Huichun Xu, Lisa R. Yanek, Ivana V. Yang, Rongze Yang, N. Zaghloul, M. Zekavat, Yingze Zhang, Snow Xueyan Zhao, Wei Zhao, Degui Zhi, Xiang Zhou, Xiaofeng Zhu, M. Zody, S. Zoellner, Moustafa Gonçalo R. Donna K. Stella Tim Elizabeth Christie Abdalla Abecasis Arnett Aslibekyan Assimes Atkinso, Moustafa Abdalla, Elizabeth G. Atkinson, Christie M. Ballantyne, C. Bodea, Jenna C. Carlson, I. Chang, S. Chun, P. D. de Vries, R. Do, A. Elliott, A. Ganna, S. Graham, Mary E. Haas, B. Haring, B. Himes, G. Jarvik, Jicai Jiang, G. Jun, Rita R. Kalyani, A. Khera, D. Klarin, B. Kral, R. Lemaitre, Zilin Li, Xihao Li, Ravi Mathur, J. Mclenithan, Andrew Moran, T. Nakao, Christopher J. O'Donnell, A. Pampana, A. Patel, G. Peloso, J. Pirruccello, Samantha Rosenthal, Jane Schoenberg, M. Selvaraj, Shamil R. Sunyaev, I. Surakka, M. Uddin, Sarah Urbut, M. Verbanck, A. Von Holle, K. Wiggins, B. Wolford, Jingwen Zhang, B. Neale, Shamil R. Sunyaev, Gonçalo R. Abecasis, Jerome I. Rotter, Cristen J. Willer, Pradeep Natarajan, Xihong Lin +457 moresemanticscholar +1 more sourceFrom meadows to milk to mucosa – adaptation of Streptococcus and Lactococcus species to their nutritional environments [PDF]
, 2012 Lactic acid bacteria (LAB) are indigenous to food-related habitats as well as associated with the mucosal surfaces of animals. The LAB family Streptococcaceae consists of the genera Lactococcus and Streptococcus.Kok, Jan,, Kuipers, Oscar P.,, Price, Claire E.,, Zeyniyev, Araz, +3 morecore +8 more sourcesComplete mitochondrial genomes of Culicoides brevitarsis and Culicoides imicola biting midge vectors of Bluetongue Virus
Mitochondrial DNA. Part B. ResourcesBiting midges (Culicoides spp.) are important vectors of several insect borne arboviruses but are underrepresented in terms of availability of high-resolution genomic resources. We assembled and annotated complete mitochondrial genomes for two Culicoides Khandaker Asif Ahmed, Anjana Karawita, Melissa J. Klein, Luana Fiorella Mincarelli, Barbara Secondini, Giuseppe Satta, Massimo Ancora, Cipriano Foxi, Marco Di Domenico, Michela Quaglia, Maria Goffredo, Alessio Lorusso, Cesare Cammà, Leon Court, Rahul V. Rane, Tom K. Walsh, Prasad N. Paradkar, Debbie Eagles, Gunjan Pandey, Christopher M. Hardy +19 moredoaj +1 more sourceWhole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
Nature, 2011 Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western countries, is a heterogeneous disease with variable clinical presentation and evolution.X. Puente, M. Pinyol, V. Quesada, L. Conde, G. R. Ordóñez, N. Villamor, G. Escaramís, P. Jares, S. Beá, M. González-Díaz, Laia Bassaganyas, T. Baumann, M. Juan, M. López-Guerra, D. Colomer, J. Tubío, C. López, A. Navarro, C. Tornador, M. Aymerich, M. Rozman, J. Hernández, Diana A. Puente, J. Freije, G. Velasco, A. Gutiérrez-Fernández, D. Costa, Anna Carrió, S. Guijarro, A. Enjuanes, L. Hernández, J. Yagüe, Pilar Nicolàs, C. Romeo-Casabona, H. Himmelbauer, Ester Castillo, J. C. Dohm, S. de Sanjosé, M. Piris, E. de Álava, J. Miguel, R. Royo, J. Gelpí, D. Torrents, M. Orozco, D. Pisano, A. Valencia, R. Guigó, M. Bayés, S. Heath, M. Gut, P. Klatt, J. Marshall, K. Raine, L. Stebbings, P. Futreal, Michael R. Stratton, Peter J. Campbell, I. Gut, A. López-Guillermo, X. Estivill, E. Montserrat, C. López-Otín, E. Campo +63 moresemanticscholar +1 more sourceGenomic Characterization of a Wild-Type Bovine alphaherpesvirus 1 (BoAHV-1) Strain Isolated in an Outbreak in Central Italy
VirusesBovine alphaherpesvirus-1 (BoAHV-1) infection is common in cattle worldwide. However, information on the spread of BoAHV-1-circulating strains in Italy remains limited.Stefano Petrini, Valentina Curini, Cecilia Righi, Cesare Cammà, Valeria Di Lollo, Elena Tinelli, Luana Fiorella Mincarelli, Elisabetta Rossi, Giulia Costantino, Barbara Secondini, Silvia Pirani, Monica Giammarioli, Francesco Feliziani +12 moredoaj +1 more sourceAssessment of whole genome amplification-induced bias through high-throughput, massively parallel whole genome sequencing
BMC Genomics, 2006 Background Whole genome amplification is an increasingly common technique through which minute amounts of DNA can be multiplied to generate quantities suitable for genetic testing and analysis.Plant Ramona N, Tartaro Karrie R, Gerstein Mark B, Sarkis Gary J, de Winter Alex, Pinard Robert, Egholm Michael, Rothberg Jonathan M, Leamon John H +8 moredoaj +1 more sourceWhole Genome Sequencing in Hypoplastic Left Heart Syndrome
Journal of Cardiovascular Development and Disease, 2022 Hypoplastic left heart syndrome (HLHS) is a genetically complex disorder. Whole genome sequencing enables comprehensive scrutiny of single nucleotide variants and small insertions/deletions, within both coding and regulatory regions of the genome ...Jeanne L. Theis, Timothy M. Olsondoaj +1 more sourceEstimating absolute methylation levels at single-CpG resolution from methylation enrichment and restriction enzyme sequencing methods [PDF]
, 2013 Recent advancements in sequencing-based DNA methylation profiling methods provide an unprecedented opportunity to map complete DNA methylomes. These include whole-genome bisulfite sequencing (WGBS, MethylC-seq, or BS-seq), reduced-representation ...Cheng, Jeffrey B, Costello, Joseph F., Hirst, Martin, Hong, Chibo, Li, Daofeng, Ligon, Keith L, Maire, Cécile L, Marra, Marco A, Stevens, Michael, Wang, Ting, Xie, Mingchao +10 morecore +2 more sources