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

Structural variation in 1,019 diverse humans based on long-read sequencing

基于长读长测序的1019个不同人类样本的结构变异分析

Siegfried Schloissnig # ,Samarendra Pani # ,Jana Ebler ,Carsten Hain ,Vasiliki Tsapalou ,Arda Söylev ,Patrick Hüther ,Hufsah Ashraf ,Timofey Prodanov ,Mila Asparuhova ,Hugo Magalhães ,Wolfram Höps ,Jesus Emiliano Sotelo-Fonseca ,Tomas Fitzgerald ,Walter Santana-Garcia ,Ricardo Moreira-Pinhal ,Sarah Hunt ,Francy J Pérez-Llanos ,Tassilo Erik Wollenweber ,Sugirthan Sivalingam ,Dagmar Wieczorek ,Mario Cáceres ,Christian Gilissen ,Ewan Birney ,Zhihao Ding ,Jan Nygaard Jensen ,Nikhil Podduturi ,Jan Stutzki ,Bernardo Rodriguez-Martin ,Tobias Rausch ,Tobias Marschall ,Jan O Korbel

Complex genetic variation in nearly complete human genomes

近乎完整的人类基因组中存在复杂的遗传变异

Logsdon, Glennis A; Ebert, Peter; Audano, Peter A; Loftus, Mark; Porubsky, David; Ebler, Jana; Yilmaz, Feyza; Hallast, Pille; Prodanov, Timofey; Yoo, DongAhn; Paisie, Carolyn A; Harvey, William T; Zhao, Xuefang; Martino, Gianni V; Henglin, Mir; Munson, Katherine M; Rabbani, Keon; Chin, Chen-Shan; Gu, Bida; Ashraf, Hufsah; Scholz, Stephan; Austine-Orimoloye, Olanrewaju; Balachandran, Parithi; Bonder, Marc Jan; Cheng, Haoyu; Chong, Zechen; Crabtree, Jonathan; Gerstein, Mark; Guethlein, Lisbeth A; Hasenfeld, Patrick; Hickey, Glenn; Hoekzema, Kendra; Hunt, Sarah E; Jensen, Matthew; Jiang, Yunzhe; Koren, Sergey; Kwon, Youngjun; Li, Chong; Li, Heng; Li, Jiaqi; Norman, Paul J; Oshima, Keisuke K; Paten, Benedict; Phillippy, Adam M; Pollock, Nicholas R; Rausch, Tobias; Rautiainen, Mikko; Song, Yuwei; Söylev, Arda; Sulovari, Arvis; Surapaneni, Likhitha; Tsapalou, Vasiliki; Zhou, Weichen; Zhou, Ying; Zhu, Qihui; Zody, Michael C; Mills, Ryan E; Devine, Scott E; Shi, Xinghua; Talkowski, Michael E; Chaisson, Mark J P; Dilthey, Alexander T; Konkel, Miriam K; Korbel, Jan O; Lee, Charles; Beck, Christine R; Eichler, Evan E; Marschall, Tobias

Author Correction: Complex genetic variation in nearly complete human genomes

作者更正:近乎完整的人类基因组中存在复杂的遗传变异

Logsdon, Glennis A; Ebert, Peter; Audano, Peter A; Loftus, Mark; Porubsky, David; Ebler, Jana; Yilmaz, Feyza; Hallast, Pille; Prodanov, Timofey; Yoo, DongAhn; Paisie, Carolyn A; Harvey, William T; Zhao, Xuefang; Martino, Gianni V; Henglin, Mir; Munson, Katherine M; Rabbani, Keon; Chin, Chen-Shan; Gu, Bida; Ashraf, Hufsah; Scholz, Stephan; Austine-Orimoloye, Olanrewaju; Balachandran, Parithi; Bonder, Marc Jan; Cheng, Haoyu; Chong, Zechen; Crabtree, Jonathan; Gerstein, Mark; Guethlein, Lisbeth A; Hasenfeld, Patrick; Hickey, Glenn; Hoekzema, Kendra; Hunt, Sarah E; Jensen, Matthew; Jiang, Yunzhe; Koren, Sergey; Kwon, Youngjun; Li, Chong; Li, Heng; Li, Jiaqi; Norman, Paul J; Oshima, Keisuke K; Paten, Benedict; Phillippy, Adam M; Pollock, Nicholas R; Rausch, Tobias; Rautiainen, Mikko; Song, Yuwei; Söylev, Arda; Sulovari, Arvis; Surapaneni, Likhitha; Tsapalou, Vasiliki; Zhou, Weichen; Zhou, Ying; Zhu, Qihui; Zody, Michael C; Mills, Ryan E; Devine, Scott E; Shi, Xinghua; Talkowski, Michael E; Chaisson, Mark J P; Dilthey, Alexander T; Konkel, Miriam K; Korbel, Jan O; Lee, Charles; Beck, Christine R; Eichler, Evan E; Marschall, Tobias

Pangenome graph construction from genome alignments with Minigraph-Cactus

利用 Minigraph-Cactus 从基因组比对构建泛基因组图

Hickey, Glenn; Monlong, Jean; Ebler, Jana; Novak, Adam M; Eizenga, Jordan M; Gao, Yan; Marschall, Tobias; Li, Heng; Paten, Benedict

Complex genetic variation in nearly complete human genomes

近乎完整的人类基因组中存在复杂的遗传变异

Logsdon, Glennis A; Ebert, Peter; Audano, Peter A; Loftus, Mark; Porubsky, David; Ebler, Jana; Yilmaz, Feyza; Hallast, Pille; Prodanov, Timofey; Yoo, DongAhn; Paisie, Carolyn A; Harvey, William T; Zhao, Xuefang; Martino, Gianni V; Henglin, Mir; Munson, Katherine M; Rabbani, Keon; Chin, Chen-Shan; Gu, Bida; Ashraf, Hufsah; Austine-Orimoloye, Olanrewaju; Balachandran, Parithi; Bonder, Marc Jan; Cheng, Haoyu; Chong, Zechen; Crabtree, Jonathan; Gerstein, Mark; Guethlein, Lisbeth A; Hasenfeld, Patrick; Hickey, Glenn; Hoekzema, Kendra; Hunt, Sarah E; Jensen, Matthew; Jiang, Yunzhe; Koren, Sergey; Kwon, Youngjun; Li, Chong; Li, Heng; Li, Jiaqi; Norman, Paul J; Oshima, Keisuke K; Paten, Benedict; Phillippy, Adam M; Pollock, Nicholas R; Rausch, Tobias; Rautiainen, Mikko; Scholz, Stephan; Song, Yuwei; Söylev, Arda; Sulovari, Arvis; Surapaneni, Likhitha; Tsapalou, Vasiliki; Zhou, Weichen; Zhou, Ying; Zhu, Qihui; Zody, Michael C; Mills, Ryan E; Devine, Scott E; Shi, Xinghua; Talkowski, Mike E; Chaisson, Mark J P; Dilthey, Alexander T; Konkel, Miriam K; Korbel, Jan O; Lee, Charles; Beck, Christine R; Eichler, Evan E; Marschall, Tobias

A draft human pangenome reference

人类泛基因组参考草案

Wen-Wei Liao #, Mobin Asri #, Jana Ebler #, Daniel Doerr, Marina Haukness, Glenn Hickey, Shuangjia Lu, Julian K Lucas, Jean Monlong, Haley J Abel, Silvia Buonaiuto, Xian H Chang, Haoyu Cheng, Justin Chu, Vincenza Colonna, Jordan M Eizenga, Xiaowen Feng, Christian Fischer, Robert S Fulton, Shilpa Gar

Bifurcation behaviors shape how continuous physical dynamics solves discrete Ising optimization

分岔行为决定了连续物理动力学如何求解离散伊辛优化问题

Wang, Juntao; Ebler, Daniel; Wong, K Y Michael; Hui, David Shui Wing; Sun, Jie

Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia

光学基因组图谱鉴定出儿童 ETV6::RUNX1+ 和高超二倍体急性淋巴细胞白血病中新的复发性结构改变

Brandes, Danielle; Yasin, Layal; Nebral, Karin; Ebler, Jana; Schinnerl, Dagmar; Picard, Daniel; Bergmann, Anke K; Alam, Jubayer; Köhrer, Stefan; Haas, Oskar A; Attarbaschi, Andishe; Marschall, Tobias; Stanulla, Martin; Borkhardt, Arndt; Brozou, Triantafyllia; Fischer, Ute; Wagener, Rabea

Inversion polymorphism in a complete human genome assembly.

人类基因组完整组装中的倒位多态性

Porubsky David, Harvey William T, Rozanski Allison N, Ebler Jana, Höps Wolfram, Ashraf Hufsah, Hasenfeld Patrick, Paten Benedict, Sanders Ashley D, Marschall Tobias, Korbel Jan O, Eichler Evan E

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

全基因组长读测序降采样及其对变异调用精度和召回率的影响

William T Harvey, Peter Ebert, Jana Ebler, Peter A Audano, Katherine M Munson, Kendra Hoekzema, David Porubsky, Christine R Beck, Tobias Marschall, Kiran Garimella, Evan E Eichler