日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

更正:开发并广泛测序了经广泛认可的“瓶中基因组”匹配的肿瘤-正常样本对

McDaniel, Jennifer H; Patel, Vaidehi; Olson, Nathan D; He, Hua-Jun; He, Zhiyong; Cole, Kenneth D; Gooden, Alexander A; Schmitt, Anthony; Sikkink, Kristin; Sedlazeck, Fritz J; Doddapaneni, Harsha; Jhangiani, Shalini N; Muzny, Donna M; Gingras, Marie-Claude; Mehta, Heer; Behera, Sairam; Paulin, Luis F; Hastie, Alex R; Yu, Hung-Chun; Weigman, Victor; Rojas, Alison; Kennedy, Katie; Remington, Jamie; Salas-González, Isai; Sudkamp, Mitch; Wiseman, Kelly; Lajoie, Bryan R; Levy, Shawn; Jain, Miten; Akeson, Stuart; Narzisi, Giuseppe; Steinsnyder, Zoe; Reeves, Catherine; Shelton, Jennifer; Kingan, Sarah B; Lambert, Christine; Baybayan, Primo; Wenger, Aaron M; McLaughlin, Ian J; Adamson, Aaron; Kingsley, Christopher; Wescott, Melanie; Kim, Young; Paten, Benedict; Park, Jimin; Violich, Ivo; Miga, Karen H; Gardner, Joshua; McNulty, Brandy; Rosen, Gail L; McCoy, Rajiv; Brundu, Francesco; Sayyari, Erfan; Scheffler, Konrad; Truong, Sean; Catreux, Severine; Hannah, Lesley Chapman; Lipson, Doron; Benjamin, Hila; Iremadze, Nika; Soifer, Ilya; Krieger, Gat; Eacker, Stephen; Wood, Mary; Cross, Erin; Husar, Greg; Gross, Stephen; Vernich, Michael; Kolmogorov, Mikhail; Ahmad, Tanveer; Keskus, Ayse G; Bryant, Asher; Thibaud-Nissen, Francoise; Trow, Jonathan; Proszynski, Jacqueline; Hirschberg, Jeremy Wain; Ryon, Krista; Mason, Christopher E; Bhakta, Mital S; Sanborn, J Zachary; Munding, Elizabeth M; Wagner, Justin; Xiao, Chunlin; Liss, Andrew S; Zook, Justin M

HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing

HiPhase:对来自 HiFi 测序的小型、结构性和串联重复序列变异进行联合定相

Holt, James M; Saunders, Christopher T; Rowell, William J; Kronenberg, Zev; Wenger, Aaron M; Eberle, Michael

Revealing long-range heterogeneous organization of nucleoproteins with N(6)-methyladenine footprinting

利用N(6)-甲基腺嘌呤足迹法揭示核蛋白的长程异质性组织

Yang, Wentao; Wang, Xue Qing; Wenger, Aaron M; Wei, Fan; Yu, Jingqi; Liu, Yifan; Dou, Yali

The complete sequence of a human Y chromosome

人类Y染色体的完整序列

Rhie, Arang; Nurk, Sergey; Cechova, Monika; Hoyt, Savannah J; Taylor, Dylan J; Altemose, Nicolas; Hook, Paul W; Koren, Sergey; Rautiainen, Mikko; Alexandrov, Ivan A; Allen, Jamie; Asri, Mobin; Bzikadze, Andrey V; Chen, Nae-Chyun; Chin, Chen-Shan; Diekhans, Mark; Flicek, Paul; Formenti, Giulio; Fungtammasan, Arkarachai; Garcia Giron, Carlos; Garrison, Erik; Gershman, Ariel; Gerton, Jennifer L; Grady, Patrick G S; Guarracino, Andrea; Haggerty, Leanne; Halabian, Reza; Hansen, Nancy F; Harris, Robert; Hartley, Gabrielle A; Harvey, William T; Haukness, Marina; Heinz, Jakob; Hourlier, Thibaut; Hubley, Robert M; Hunt, Sarah E; Hwang, Stephen; Jain, Miten; Kesharwani, Rupesh K; Lewis, Alexandra P; Li, Heng; Logsdon, Glennis A; Lucas, Julian K; Makalowski, Wojciech; Markovic, Christopher; Martin, Fergal J; Mc Cartney, Ann M; McCoy, Rajiv C; McDaniel, Jennifer; McNulty, Brandy M; Medvedev, Paul; Mikheenko, Alla; Munson, Katherine M; Murphy, Terence D; Olsen, Hugh E; Olson, Nathan D; Paulin, Luis F; Porubsky, David; Potapova, Tamara; Ryabov, Fedor; Salzberg, Steven L; Sauria, Michael E G; Sedlazeck, Fritz J; Shafin, Kishwar; Shepelev, Valery A; Shumate, Alaina; Storer, Jessica M; Surapaneni, Likhitha; Taravella Oill, Angela M; Thibaud-Nissen, Françoise; Timp, Winston; Tomaszkiewicz, Marta; Vollger, Mitchell R; Walenz, Brian P; Watwood, Allison C; Weissensteiner, Matthias H; Wenger, Aaron M; Wilson, Melissa A; Zarate, Samantha; Zhu, Yiming; Zook, Justin M; Eichler, Evan E; O'Neill, Rachel J; Schatz, Michael C; Miga, Karen H; Makova, Kateryna D; Phillippy, Adam M

Comprehensive de novo mutation discovery with HiFi long-read sequencing

利用HiFi长读长测序进行全面的新生突变发现

Kucuk, Erdi; van der Sanden, Bart P G H; O'Gorman, Luke; Kwint, Michael; Derks, Ronny; Wenger, Aaron M; Lambert, Christine; Chakraborty, Shreyasee; Baybayan, Primo; Rowell, William J; Brunner, Han G; Vissers, Lisenka E L M; Hoischen, Alexander; Gilissen, Christian

Curated variation benchmarks for challenging medically relevant autosomal genes

针对具有挑战性的医学相关常染色体基因的精选变异基准

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; Jáspez, David; Lorenzo-Salazar, José M; Muñoz-Barrera, Adrián; Rubio-Rodríguez, 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

A multi-platform reference for somatic structural variation detection

用于体细胞结构变异检测的多平台参考

Espejo Valle-Inclan, Jose; 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; van Roosmalen, Markus J; Wenger, Aaron M; Ylstra, Bauke; Fijneman, Remond J A; Kloosterman, Wigard P; Cuppen, Edwin

Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

在临床环境中应用长读长测序来提高诊断率

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

A robust benchmark for detection of germline large deletions and insertions

用于检测种系大片段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