未登录 Characterization and visualization of tandem repeats at genome scale Dolzhenko, Egor; English, Adam; Dashnow, Harriet; Brandine, Guilherme De Sena; Mokveld, Tom; Rowell, William J.; Karniski, Caitlin; Kronenberg, Zev; Danzi, Matt C.; Cheung, Warren A.; Bi, Chengpeng; Farrow, Emily; Wenger, Aaron; Chua, Khi Pin; Martinez-Cerdeno, Veronica; Bartley, Trevor D.; Jin, Peng; Nelson, David L.; Zuchner, Stephan; Pastinen, Tomi; Quinlan, Aaron R.; Sedlazeck, Fritz J.; Eberle, Michael A. 分享 收藏
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort Cheung, Warren A.; Johnson, Adam F.; Rowell, William J.; Farrow, Emily; Hall, Richard; Cohen, Ana S. A.; Means, John C.; Zion, Tricia N.; Portik, Daniel M.; Saunders, Christopher T.; Koseva, Boryana; Bi, Chengpeng; Truong, Tina K.; Schwendinger-Schreck, Carl; Yoo, Byunggil; Johnston, Jeffrey J.; Gibson, Margaret; Evrony, Gilad; Rizzo, William B.; Thiffault, Isabelle; Younger, Scott T.; Curran, Tom; Wenger, Aaron M.; Grundberg, Elin; Pastinen, Tomi 分享 收藏
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate Sanford Kobayashi, Erica; Batalov, Serge; Wenger, Aaron M.; Lambert, Christine; Dhillon, Harsharan; Hall, Richard J.; Baybayan, Primo; Ding, Yan; Rego, Seema; Wigby, Kristen; Friedman, Jennifer; Hobbs, Charlotte; Bainbridge, Matthew N. 分享 收藏
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer Baid, Gunjan; Cook, Daniel E.; Shafin, Kishwar; Yun, Taedong; Llinares-Lopez, Felipe; Berthet, Quentin; Belyaeva, Anastasiya; Topfer, Armin; Wenger, Aaron M.; Rowell, William J.; Yang, Howard; Kolesnikov, Alexey; Ammar, Waleed; Vert, Jean-Philippe; Vaswani, Ashish; McLean, Cory Y.; Nattestad, Maria; Chang, Pi-Chuan; Carroll, Andrew 分享 收藏
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes Cohen, Ana S. A.; Farrow, Emily G.; Abdelmoity, Ahmed T.; Alaimo, Joseph T.; Amudhavalli, Shivarajan M.; Anderson, John T.; Bansal, Lalit; Bartik, Lauren; Baybayan, Primo; Belden, Bradley; Berrios, Courtney D.; Biswell, Rebecca L.; Buczkowicz, Pawel; Buske, Orion; Chakraborty, Shreyasee; Cheung, Warren A.; Coffman, Keith A.; Cooper, Ashley M.; Cross, Laura A.; Curran, Tom; Dang, Thuy Tien T.; Elfrink, Mary M.; Engleman, Kendra L.; Fecske, Erin D.; Fieser, Cynthia; Fitzgerald, Keely; Fleming, Emily A.; Gadea, Randi N.; Gannon, Jennifer L.; Gelineau-Morel, Rose N.; Gibson, Margaret; Goldstein, Jeffrey; Grundberg, Elin; Halpin, Kelsee; Harvey, Brian S.; Heese, Bryce A.; Hein, Wendy; Herd, Suzanne M.; Hughes, Susan S.; Ilyas, Mohammed; Jacobson, Jill; Jenkins, Janda L.; Jiang, Shao; Johnston, Jeffrey J.; Keeler, Kathryn; Korlach, Jonas; Kussmann, Jennifer; Lambert, Christine; Lawson, Caitlin; Le Pichon, Jean-Baptiste; Leeder, James Steven; Little, Vicki C.; Louiselle, Daniel A.; Lypka, Michael; McDonald, Brittany D.; Miller, Neil; Modrcin, Ann; Nair, Annapoorna; Neal, Shelby H.; Oermann, Christopher M.; Pacicca, Donna M.; Pawar, Kailash; Posey, Nyshele L.; Price, Nigel; Puckett, Laura M. B.; Quezada, Julio F.; Raje, Nikita; Rowell, William J.; Rush, Eric; Sampath, Venkatesh; Saunders, Carol J.; Schwager, Caitlin; Schwend, Richard M.; Shaffer, Elizabeth; Smail, Craig; Soden, Sarah; Strenk, Meghan E.; Sullivan, Bonnie R.; Sweeney, Brooke R.; Tam-Williams, Jade B.; Walter, Adam M.; Welsh, Holly; Wenger, Aaron M.; Willig, Laurel K.; Yan, Yun; Younger, Scott T.; Zhou, Dihong; Zion, Tricia N.; Thiffault, Isabelle; Pastinen, Tomi 分享 收藏
A multi-platform reference for somatic structural variation detection Valle-Inclan, Jose Espejo; Besselink, Nicolle J. M.; de Bruijn, Ewart; Cameron, Daniel L.; Ebler, Jana; Kutzera, Joachim; van Lieshout, Stef; Marschall, Tobias; Nelen, Marcel; Priestley, Peter; Renkens, Ivo; Roemer, Margaretha G. M.; Roosmalen, Markus J. van; Wenger, Aaron M.; Ylstra, Bauke; Fijneman, Remond J. A.; Kloosterman, Wigard P.; Cuppen, Edwin 分享 收藏
Benchmarking challenging small variants with linked and long reads 具有链接和长读取的具有挑战性的小变体的基准测试 Wagner, Justin; Olson, Nathan D.; Harris, Lindsay; Khan, Ziad; Farek, Jesse; Mahmoud, Medhat; Stankovic, Ana; Kovacevic, Vladimir; Yoo, Byunggil; Miller, Neil; Rosenfeld, Jeffrey A.; Ni, Bohan; Zarate, Samantha; Kirsche, Melanie; Aganezov, Sergey; Schatz, Michael C.; Narzisi, Giuseppe; Byrska-Bishop, Marta; Clarke, Wayne; Evani, Uday S.; Markello, Charles; Shafin, Kishwar; Zhou, Xin; Sidow, Arend; Bansal, Vikas; Ebert, Peter; Marschall, Tobias; Lansdorp, Peter; Hanlon, Vincent; Mattsson, Carl-Adam; Barrio, Alvaro Martinez; Fiddes, Ian T.; Xiao, Chunlin; Fungtammasan, Arkarachai; Chin, Chen-Shan; Wenger, Aaron M.; Rowell, William J.; Sedlazeck, Fritz J.; Carroll, Andrew; Salit, Marc; Zook, Justin M. 分享 收藏
Curated variation benchmarks for challenging medically relevant autosomal genes 具有挑战性的医学相关常染色体基因的策划变异基准 Wagner, Justin; Olson, Nathan D.; Harris, Lindsay; McDaniel, Jennifer; Cheng, Haoyu; Fungtammasan, Arkarachai; Hwang, Yih-Chii; Gupta, Richa; Wenger, Aaron M.; Rowell, William J.; Khan, Ziad M.; Farek, Jesse; Zhu, Yiming; Pisupati, Aishwarya; Mahmoud, Medhat; Xiao, Chunlin; Yoo, Byunggil; Sahraeian, Sayed Mohammad Ebrahim; Miller, Danny E.; Jaspez, David; Lorenzo-Salazar, Jose M.; Munoz-Barrera, Adrian; Rubio-Rodriguez, Luis A.; Flores, Carlos; Narzisi, Giuseppe; Evani, Uday Shanker; Clarke, Wayne E.; Lee, Joyce; Mason, Christopher E.; Lincoln, Stephen E.; Miga, Karen H.; Ebbert, Mark T. W.; Shumate, Alaina; Li, Heng; Chin, Chen-Shan; Zook, Justin M.; Sedlazeck, Fritz J. 分享 收藏
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing 具有收缩的极长NOTCH2NLC重复扩增的父亲至后代传播: 通过长读测序进行遗传和表观遗传分析 Fukuda, Hiromi; Yamaguchi, Daisuke; Nyquist, Kristofor; Yabuki, Yasushi; Miyatake, Satoko; Uchiyama, Yuri; Hamanaka, Kohei; Saida, Ken; Koshimizu, Eriko; Tsuchida, Naomi; Fujita, Atsushi; Mitsuhashi, Satomi; Ohbo, Kazuyuki; Satake, Yuki; Sone, Jun; Doi, Hiroshi; Morihara, Keisuke; Okamoto, Tomoko; Takahashi, Yuji; Wenger, Aaron M.; Shioda, Norifumi; Tanaka, Fumiaki; Matsumoto, Naomichi; Mizuguchi, Takeshi 分享 收藏
Long-read trio sequencing of individuals with unsolved intellectual disability (Nov, 10.1038/s41431-020-00770-0, 2020) Pauper, Marc; Kucuk, Erdi; Wenger, Aaron M.; Chakraborty, Shreyasee; Baybayan, Primo; Kwint, Michael; van der Sanden, Bart; Nelen, Marcel R.; Derks, Ronny; Brunner, Han G.; Hoischen, Alexander; Vissers, Lisenka E. L. M.; Gilissen, Christian 分享 收藏
Long-read trio sequencing of individuals with unsolved intellectual disability Pauper, Marc; Kucuk, Erdi; Wenger, Aaron M.; Chakraborty, Shreyasee; Baybayan, Primo; Kwint, Michael; van der Sanden, Bart; Nelen, Marcel R.; Derks, Ronny; Brunner, Han G.; Hoischen, Alexander; Vissers, Lisenka E. L. M.; Gilissen, Christian 分享 收藏
A robust benchmark for detection of germline large deletions and insertions (Jun, 10.1038/s41587-020-0538-8, 2020) 用于检测种系大缺失和插入的稳健基准 (6月，10.1038/s41587-020-0538-8，2020) Zook, Justin M.; Hansen, Nancy F.; Olson, Nathan D.; Chapman, Lesley; Mullikin, James C.; Xiao, Chunlin; Sherry, Stephen; Koren, Sergey; Phillippy, Adam M.; Boutros, Paul C.; Sahraeian, Sayed Mohammad E.; Huang, Vincent; Rouette, Alexandre; Alexander, Noah; Mason, Christopher E.; Hajirasouliha, Iman; Ricketts, Camir; Lee, Joyce; Tearle, Rick; Fiddes, Ian T.; Barrio, Alvaro Martinez; Wala, Jeremiah; Carroll, Andrew; Ghaffari, Noushin; Rodriguez, Oscar L.; Bashir, Ali; Jackman, Shaun; Farrell, John J.; Wenger, Aaron M.; Alkan, Can; Soylev, Arda; Schatz, Michael C.; Garg, Shilpa; Church, George; Marschall, Tobias; Chen, Ken; Fan, Xian; English, Adam C.; Rosenfeld, Jeffrey A.; Zhou, Weichen; Mills, Ryan E.; Sage, Jay M.; Davis, Jennifer R.; Kaiser, Michael D.; Oliver, John S.; Catalano, Anthony P.; Chaisson, Mark J. P.; Spies, Noah; Sedlazeck, Fritz J.; Salit, Marc 分享 收藏
A robust benchmark for detection of germline large deletions and insertions 用于检测种系大缺失和插入的可靠基准 Zook, Justin M.; Hansen, Nancy F.; Olson, Nathan D.; Chapman, Lesley; Mullikin, James C.; Xiao, Chunlin; Sherry, Stephen; Koren, Sergey; Phillippy, Adam M.; Boutros, Paul C.; Sahraeian, Sayed Mohammad E.; Huang, Vincent; Rouette, Alexandre; Alexander, Noah; Mason, Christopher E.; Hajirasouliha, Iman; Ricketts, Camir; Lee, Joyce; Tearle, Rick; Fiddes, Ian T.; Barrio, Alvaro Martinez; Wala, Jeremiah; Carroll, Andrew; Ghaffari, Noushin; Rodriguez, Oscar L.; Bashir, Ali; Jackman, Shaun; Farrell, John J.; Wenger, Aaron M.; Alkan, Can; Soylev, Arda; Schatz, Michael C.; Garg, Shilpa; Church, George; Marschall, Tobias; Chen, Ken; Fan, Xian; English, Adam C.; Rosenfeld, Jeffrey A.; Zhou, Weichen; Mills, Ryan E.; Sage, Jay M.; Davis, Jennifer R.; Kaiser, Michael D.; Oliver, John S.; Catalano, Anthony P.; Chaisson, Mark J. P.; Spies, Noah; Sedlazeck, Fritz J.; Salit, Marc 分享 收藏
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature Birgmeier, Johannes; Haeussler, Maximilian; Deisseroth, Cole; Steinberg, Ethan H.; Jagadeesh, Karthik A.; Ratner, Alexander J.; Guturu, Harendra; Wenger, Aaron M.; Diekhans, Mark E.; Stenson, Peter D.; Cooper, David N.; Re, Christopher; Beggs, Alan H.; Bernstein, Jonathan; Bejerano, Gill 分享 收藏
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 Corbett, Mark A.; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F.; Florian, Rahel; Schneider, Amy L.; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; van Rootselaar, Anne-Fleur; Correll, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; Baldassari, Sara; Tinuper, Paolo; Barton, Kirston; Carswell, Shaun; Smith, Martin; Berardelli, Alfredo; Carroll, Renee; Gardner, Alison; Friend, Kathryn L.; Blatt, Ilan; Iacomino, Michele; Di Bonaventura, Carlo; Striano, Salvatore; Buratti, Julien; Keren, Boris; Nava, Caroline; Forlani, Sylvie; Rudolf, Gabrielle; Hirsch, Edouard; Leguern, Eric; Labauge, Pierre; Balestrini, Simona; Sander, Josemir W.; Afawi, Zaid; Helbig, Ingo; Ishiura, Hiroyuki; Tsuji, Shoji; Sisodiya, Sanjay M.; Casari, Giorgio; Sadleir, Lynette G.; van Coller, Riaan; Tijssen, Marina A. J.; Klein, Karl Martin; van den Maagdenberg, Arn M. J. M.; Zara, Federico; Guerrini, Renzo; Berkovic, Samuel F.; Pippucci, Tommaso; Canafoglia, Laura; Bahlo, Melanie; Striano, Pasquale; Scheffer, Ingrid E.; Brancati, Francesco; Depienne, Christel; Gecz, Jozef 分享 收藏
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome 精确的圆形一致性长读测序可改善人类基因组的变异检测和组装 Wenger, Aaron M.; Peluso, Paul; Rowell, William J.; Chang, Pi-Chuan; Hall, Richard J.; Concepcion, Gregory T.; Ebler, Jana; Fungtammasan, Arkarachai; Kolesnikov, Alexey; Olson, Nathan D.; Topfer, Armin; Alonge, Michael; Mahmoud, Medhat; Qian, Yufeng; Chin, Chen-Shan; Phillippy, Adam M.; Schate, Michael C.; Myers, Gene; DePristo, Mark A.; Ruan, Jue; Marschall, Tobias; Sedlazeck, Fritz J.; Zook, Justin M.; Li, Heng; Koren, Sergey; Carroll, Andrew; Rank, David R.; Hunkapiller, Michael W. 分享 收藏
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Multi-platform discovery of haplotype-resolved structural variation in human genomes 人类基因组单倍型解析结构变异的多平台发现 Chaisson, Mark J. P.; Sanders, Ashley D.; Zhao, Xuefang; Malhotra, Ankit; Porubsky, David; Rausch, Tobias; Gardner, Eugene J.; Rodriguez, Oscar L.; Guo, Li; Collins, Ryan L.; Fan, Xian; Wen, Jia; Handsaker, Robert E.; Fairley, Susan; Kronenberg, Zev N.; Kong, Xiangmeng; Hormozdiari, Fereydoun; Lee, Dillon; Wenger, Aaron M.; Hastie, Alex R.; Antaki, Danny; Anantharaman, Thomas; Audano, Peter A.; Brand, Harrison; Cantsilieris, Stuart; Cao, Han; Cerveira, Eliza; Chen, Chong; Chen, Xintong; Chin, Chen-Shan; Chong, Zechen; Chuang, Nelson T.; Lambert, Christine C.; Church, Deanna M.; Clarke, Laura; Farrell, Andrew; Flores, Joey; Galeev, Timur; Gorkin, David U.; Gujral, Madhusudan; Guryev, Victor; Heaton, William Haynes; Korlach, Jonas; Kumar, Sushant; Kwon, Jee Young; Lam, Ernest T.; Lee, Jong Eun; Lee, Joyce; Lee, Wan-Ping; Lee, Sau Peng; Li, Shantao; Marks, Patrick; Viaud-Martinez, Karine; Meiers, Sascha; Munson, Katherine M.; Navarro, Fabio C. P.; Nelson, Bradley J.; Nodzak, Conor; Noor, Amina; Kyriazopoulou-Panagiotopoulou, Sofia; Pang, Andy W. C.; Qiu, Yunjiang; Rosanio, Gabriel; Ryan, Mallory; Stuetz, Adrian; Spierings, Diana C. J.; Ward, Alistair; Welch, AnneMarie E.; Xiao, Ming; Xu, Wei; Zhang, Chengsheng; Zhu, Qihui; Zheng-Bradley, Xiangqun; Lowy, Ernesto; Yakneen, Sergei; McCarroll, Steven; Jun, Goo; Ding, Li; Koh, Chong Lek; Ren, Bing; Flicek, Paul; Chen, Ken; Gerstein, Mark B.; Kwok, Pui-Yan; Lansdorp, Peter M.; Marth, Gabor T.; Sebat, Jonathan; Shi, Xinghua; Bashir, Ali; Ye, Kai; Devine, Scott E.; Talkowski, Michael E.; Mills, Ryan E.; Marschall, Tobias; Korbel, Jan O.; Eichler, Evan E.; Lee, Charles 分享 收藏
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