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

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

Locityper enables targeted genotyping of complex polymorphic genes

Locityper能够对复杂的多态性基因进行靶向基因分型。

Prodanov, Timofey; Plender, Elizabeth G; Seebohm, Guiscard; Meuth, Sven G; Eichler, Evan E; Marschall, Tobias

The impact of long-read sequencing on human population-scale genomics

长读长测序对人类群体基因组学的影响

Rausch, Tobias; Marschall, Tobias; Korbel, Jan O

Locityper: targeted genotyping of complex polymorphic genes

Locityper:复杂多态性基因的靶向基因分型

Prodanov, Timofey; Plender, Elizabeth G; Seebohm, Guiscard; Meuth, Sven G; Eichler, Evan E; Marschall, Tobias

Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.

对多代家系进行全基因组测序,以扩展对遗传和表观遗传的研究。

Cechova Monika, Potapova Tamara A, Rechtsteiner Andreas, Hickey Glenn, Mari Rebecca Serra, Mastoras Mira, Menendez Julian, Poláková Nikol, Hebbar Prajna, Ryabov Fedor, Loucks Hailey, Groot Aljona, Pavlík Tomáš, Asri Mobin, Dong Shihua, Yan Stephanie M, Lucas Julian K, Solar Steven J, Borchers Matthew, Mattingly Mark, McKinney Sean, Krátká Marie, Mikhailova Catherine, Hanák Ondřej, Saha Sohinee Tiffany, Xu Emily, Antipov Dmitry, Koren Sergey, Eizenga Jordan M, McNulty Brandy, Gardner Joshua M V, Hillaker Todd, Violich Ivo, Markovic Christopher, Kruglyak Semyon, Levy Shawn, Wolf Trevor, Mitchell Matthew W, Scheinfeldt Laura, Cheng Haoyu, Alexandrov Ivan A, McCoy Rajiv C, Paten Benedict, Phillippy Adam M, Zook Justin M, Gerton Jennifer L, Fulton Robert S, Stitziel Nathan O, Wang Ting, Marschall Tobias, Greider Carol W, Miga Karen H

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

Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing

图谱定相:利用单细胞链测序对二倍体基因组组装图进行相位分析

Henglin, Mir; Ghareghani, Maryam; Harvey, William T; Porubsky, David; Koren, Sergey; Eichler, Evan E; Ebert, Peter; Marschall, Tobias

Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B

分泌型粘蛋白MUC5AC和MUC5B的结构和遗传多样性

Plender, Elizabeth G; Prodanov, Timofey; Hsieh, PingHsun; Nizamis, Evangelos; Harvey, William T; Sulovari, Arvis; Munson, Katherine M; Kaufman, Eli J; O'Neal, Wanda K; Valdmanis, Paul N; Marschall, Tobias; Bloom, Jesse D; Eichler, Evan E

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

淋巴母细胞系中的整合性TAD目录揭示了人类基因组中缺失和插入的功能影响

Li, Chong; Bonder, Marc Jan; Syed, Sabriya; Jensen, Matthew; Gerstein, Mark B; Zody, Michael C; Chaisson, Mark J P; Talkowski, Michael E; Marschall, Tobias; Korbel, Jan O; Eichler, Evan E; Lee, Charles; Shi, Xinghua