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

The complete genome of the KOLF2.1J reference iPSC line

KOLF2.1J参考iPSC系的完整基因组

Jerez, Pilar Alvarez; Rhie, Arang; Kim, Juhyun; Hebbar, Prajna; Nag, Sagorika; Antipov, Dmitry; Koren, Sergey; Lara, Erika; Beilina, Alexandra; Hansen, Nancy F; Arber, Charles; Zulueta, Jimena; Crea, Peter Wild; Patel, Dhairya; Hickey, Glenn; Waltz, Brian; Malik, Laksh; Skarnes, William C; Reed, Xylena; Genner, Rylee; Daida, Kensuke; Pantazis, Caroline B; Grenn, Francis; Nalls, Mike A; Billingsley, Kimberley; Fossati, Valentina; Wray, Selina; Ward, Michael; Ryten, Mina; Singleton, Andrew B; Cookson, Mark R; Jain, Miten; Paten, Benedict; Phillippy, Adam M; Blauwendraat, Cornelis

A complete diploid human genome benchmark for personalized genomics

用于个性化基因组学的完整二倍体人类基因组基准

Hansen, Nancy F; Dwarshuis, Nathan; Ji, Hyun Joo; Rhie, Arang; Loucks, Hailey; Logsdon, Glennis A; Vollger, Mitchell R; Storer, Jessica M; Kim, Juhyun; Adam, Eleni; Altemose, Nicolas; Antipov, Dmitry; Asri, Mobin; Barreira, Sofia; Bohaczuk, Stephanie C; Bzikadze, Andrey V; Carioscia, Sara A; Carroll, Andrew; Chao, Kuan-Hao; Chu, Yanan; Das, Arun; Ebert, Peter; English, Adam; Fleharty, Mark; Fleming, Laura E; Formenti, Giulio; Guarracino, Andrea; Hartley, Gabrielle A; Jenike, Katharine; Kalleberg, Jenna; Kang, Yu; King, Robert; Lipovac, Josipa; Mastoras, Mira; Mitchell, Matthew W; Negi, Shloka; Olson, Nathan D; Oshima, Keisuke K; Paulin, Luis F; Pickett, Brandon D; Porubsky, David; Ranchalis, Jane; Ranjan, Desh; Rautiainen, Mikko; Riethman, Harold; Schnabel, Robert D; Sedlazeck, Fritz J; Shafin, Kishwar; Sikic, Mile; Solar, Steven J; Sweeten, Alexander P; Timp, Winston; Wagner, Justin; Yoo, DongAhn; Zhou, Ying; Garrison, Erik; Eichler, Evan E; Schatz, Michael C; Stergachis, Andrew B; O'Neill, Rachel J; Miga, Karen H; Salzberg, Steven L; Koren, Sergey; Zook, Justin M; Phillippy, Adam M

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

The complete sequence of a human genome

人类基因组的完整序列

Nurk, Sergey; Koren, Sergey; Rhie, Arang; Rautiainen, Mikko; Bzikadze, Andrey V; Mikheenko, Alla; Vollger, Mitchell R; Altemose, Nicolas; Uralsky, Lev; Gershman, Ariel; Aganezov, Sergey; Hoyt, Savannah J; Diekhans, Mark; Logsdon, Glennis A; Alonge, Michael; Antonarakis, Stylianos E; Borchers, Matthew; Bouffard, Gerard G; Brooks, Shelise Y; Caldas, Gina V; Chen, Nae-Chyun; Cheng, Haoyu; Chin, Chen-Shan; Chow, William; de Lima, Leonardo G; Dishuck, Philip C; Durbin, Richard; Dvorkina, Tatiana; Fiddes, Ian T; Formenti, Giulio; Fulton, Robert S; Fungtammasan, Arkarachai; Garrison, Erik; Grady, Patrick G S; Graves-Lindsay, Tina A; Hall, Ira M; Hansen, Nancy F; Hartley, Gabrielle A; Haukness, Marina; Howe, Kerstin; Hunkapiller, Michael W; Jain, Chirag; Jain, Miten; Jarvis, Erich D; Kerpedjiev, Peter; Kirsche, Melanie; Kolmogorov, Mikhail; Korlach, Jonas; Kremitzki, Milinn; Li, Heng; Maduro, Valerie V; Marschall, Tobias; McCartney, Ann M; McDaniel, Jennifer; Miller, Danny E; Mullikin, James C; Myers, Eugene W; Olson, Nathan D; Paten, Benedict; Peluso, Paul; Pevzner, Pavel A; Porubsky, David; Potapova, Tamara; Rogaev, Evgeny I; Rosenfeld, Jeffrey A; Salzberg, Steven L; Schneider, Valerie A; Sedlazeck, Fritz J; Shafin, Kishwar; Shew, Colin J; Shumate, Alaina; Sims, Ying; Smit, Arian F A; Soto, Daniela C; Sović, Ivan; Storer, Jessica M; Streets, Aaron; Sullivan, Beth A; Thibaud-Nissen, Françoise; Torrance, James; Wagner, Justin; Walenz, Brian P; Wenger, Aaron; Wood, Jonathan M D; Xiao, Chunlin; Yan, Stephanie M; Young, Alice C; Zarate, Samantha; Surti, Urvashi; McCoy, Rajiv C; Dennis, Megan Y; Alexandrov, Ivan A; Gerton, Jennifer L; O'Neill, Rachel J; Timp, Winston; Zook, Justin M; Schatz, Michael C; Eichler, Evan E; Miga, Karen H; Phillippy, Adam M

A complete reference genome improves analysis of human genetic variation

完整的参考基因组有助于改进对人类遗传变异的分析

Aganezov, Sergey; Yan, Stephanie M; Soto, Daniela C; Kirsche, Melanie; Zarate, Samantha; Avdeyev, Pavel; Taylor, Dylan J; Shafin, Kishwar; Shumate, Alaina; Xiao, Chunlin; Wagner, Justin; McDaniel, Jennifer; Olson, Nathan D; Sauria, Michael E G; Vollger, Mitchell R; Rhie, Arang; Meredith, Melissa; Martin, Skylar; Lee, Joyce; Koren, Sergey; Rosenfeld, Jeffrey A; Paten, Benedict; Layer, Ryan; Chin, Chen-Shan; Sedlazeck, Fritz J; Hansen, Nancy F; Miller, Danny E; Phillippy, Adam M; Miga, Karen H; McCoy, Rajiv C; Dennis, Megan Y; Zook, Justin M; Schatz, Michael C

Long-read mapping to repetitive reference sequences using Winnowmap2

使用 Winnowmap2 将长读序列比对到重复参考序列

Jain, Chirag; Rhie, Arang; Hansen, Nancy F; Koren, Sergey; Phillippy, Adam M

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas

KLF3 和 PAX6 是晚期、MSI 高突变型子宫内膜样腺癌的候选驱动基因。

Rudd, Meghan L; Hansen, Nancy F; Zhang, Xiaolu; Urick, Mary Ellen; Zhang, Suiyuan; Merino, Maria J; Mullikin, James C; Brody, Lawrence C; Bell, Daphne W

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

Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans

混合图谱分析可识别与非裔美国人血压表型相关的遗传区域

Liu, Zhi; Shriner, Daniel; Hansen, Nancy F; Rotimi, Charles N; Mullikin, James C

NovoGraph: Human genome graph construction from multiple long-read de novo assemblies

NovoGraph:基于多个长读长从头组装构建人类基因组图谱

Biederstedt, Evan; Oliver, Jeffrey C; Hansen, Nancy F; Jajoo, Aarti; Dunn, Nathan; Olson, Andrew; Busby, Ben; Dilthey, Alexander T