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

Recurrent evolution and selection shape structural diversity at the amylase locus

反复的进化和选择塑造了淀粉酶基因座的结构多样性

Bolognini, Davide; Halgren, Alma; Lou, Runyang Nicolas; Raveane, Alessandro; Rocha, Joana L; Guarracino, Andrea; Soranzo, Nicole; Chin, Chen-Shan; Garrison, Erik; Sudmant, Peter H

The complete sequence and comparative analysis of ape sex chromosomes

猿类性染色体的完整序列及比较分析

Makova, Kateryna D; Pickett, Brandon D; Harris, Robert S; Hartley, Gabrielle A; Cechova, Monika; Pal, Karol; Nurk, Sergey; Yoo, DongAhn; Li, Qiuhui; Hebbar, Prajna; McGrath, Barbara C; Antonacci, Francesca; Aubel, Margaux; Biddanda, Arjun; Borchers, Matthew; Bornberg-Bauer, Erich; Bouffard, Gerard G; Brooks, Shelise Y; Carbone, Lucia; Carrel, Laura; Carroll, Andrew; Chang, Pi-Chuan; Chin, Chen-Shan; Cook, Daniel E; Craig, Sarah J C; de Gennaro, Luciana; Diekhans, Mark; Dutra, Amalia; Garcia, Gage H; Grady, Patrick G S; Green, Richard E; Haddad, Diana; Hallast, Pille; Harvey, William T; Hickey, Glenn; Hillis, David A; Hoyt, Savannah J; Jeong, Hyeonsoo; Kamali, Kaivan; Pond, Sergei L Kosakovsky; LaPolice, Troy M; Lee, Charles; Lewis, Alexandra P; Loh, Yong-Hwee E; Masterson, Patrick; McGarvey, Kelly M; McCoy, Rajiv C; Medvedev, Paul; Miga, Karen H; Munson, Katherine M; Pak, Evgenia; Paten, Benedict; Pinto, Brendan J; Potapova, Tamara; Rhie, Arang; Rocha, Joana L; Ryabov, Fedor; Ryder, Oliver A; Sacco, Samuel; Shafin, Kishwar; Shepelev, Valery A; Slon, Viviane; Solar, Steven J; Storer, Jessica M; Sudmant, Peter H; Sweetalana; Sweeten, Alex; Tassia, Michael G; Thibaud-Nissen, Françoise; Ventura, Mario; Wilson, Melissa A; Young, Alice C; Zeng, Huiqing; Zhang, Xinru; Szpiech, Zachary A; Huber, Christian D; Gerton, Jennifer L; Yi, Soojin V; Schatz, Michael C; Alexandrov, Ivan A; Koren, Sergey; O'Neill, Rachel J; Eichler, Evan E; 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

Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes

泛基因组的多尺度分析能够更好地表征重复基因和临床相关基因的基因组多样性。

Chin, Chen-Shan; Behera, Sairam; Khalak, Asif; Sedlazeck, Fritz J; Sudmant, Peter H; Wagner, Justin; Zook, Justin M

Genomic variant benchmark: if you cannot measure it, you cannot improve it

基因组变异基准:如果无法衡量,就无法改进。

Majidian, Sina; Agustinho, Daniel Paiva; Chin, Chen-Shan; Sedlazeck, Fritz J; Mahmoud, Medhat

The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes

猿类性染色体的完整序列及比较分析

Makova, Kateryna D; Pickett, Brandon D; Harris, Robert S; Hartley, Gabrielle A; Cechova, Monika; Pal, Karol; Nurk, Sergey; Yoo, DongAhn; Li, Qiuhui; Hebbar, Prajna; McGrath, Barbara C; Antonacci, Francesca; Aubel, Margaux; Biddanda, Arjun; Borchers, Matthew; Bomberg, Erich; Bouffard, Gerard G; Brooks, Shelise Y; Carbone, Lucia; Carrel, Laura; Carroll, Andrew; Chang, Pi-Chuan; Chin, Chen-Shan; Cook, Daniel E; Craig, Sarah J C; de Gennaro, Luciana; Diekhans, Mark; Dutra, Amalia; Garcia, Gage H; Grady, Patrick G S; Green, Richard E; Haddad, Diana; Hallast, Pille; Harvey, William T; Hickey, Glenn; Hillis, David A; Hoyt, Savannah J; Jeong, Hyeonsoo; Kamali, Kaivan; Kosakovsky Pond, Sergei L; LaPolice, Troy M; Lee, Charles; Lewis, Alexandra P; Loh, Yong-Hwee E; Masterson, Patrick; McCoy, Rajiv C; Medvedev, Paul; Miga, Karen H; Munson, Katherine M; Pak, Evgenia; Paten, Benedict; Pinto, Brendan J; Potapova, Tamara; Rhie, Arang; Rocha, Joana L; Ryabov, Fedor; Ryder, Oliver A; Sacco, Samuel; Shafin, Kishwar; Shepelev, Valery A; Slon, Viviane; Solar, Steven J; Storer, Jessica M; Sudmant, Peter H; Sweetalana; Sweeten, Alex; Tassia, Michael G; Thibaud-Nissen, Françoise; Ventura, Mario; Wilson, Melissa A; Young, Alice C; Zeng, Huiqing; Zhang, Xinru; Szpiech, Zachary A; Huber, Christian D; Gerton, Jennifer L; Yi, Soojin V; Schatz, Michael C; Alexandrov, Ivan A; Koren, Sergey; O'Neill, Rachel J; Eichler, Evan; 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