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

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients

在智利运动障碍患者中鉴定出ZFHX3基因中的GGC重复扩增

Saffie-Awad, Paula; Moller, Abraham; Daida, Kensuke; Alvarez Jerez, Pilar; Chen, Zhongbo; Anderson, Zachary B; Isayan, Mariam; Paquette, Kimberly; Gibson, Sophia B; Fulcher, Madison; Miano-Burkhardt, Abigail; Malik, Laksh; Baker, Breeana; Jarreau, Paige; Houlden, Henry; Ryten, Mina; Gu, Bida; Chaisson, Mark J P; Miller, Danny E; Chaná-Cuevas, Pedro; Blauwendraat, Cornelis; Singleton, Andrew B; Billingsley, Kimberley J

Scalable, accessible and reproducible reference genome assembly and evaluation in Galaxy

Galaxy平台可实现可扩展、易于访问且可重复的参考基因组组装和评估。

Larivière, Delphine; Abueg, Linelle; Brajuka, Nadolina; Gallardo-Alba, Cristóbal; Grüning, Bjorn; Ko, Byung June; Ostrovsky, Alex; Palmada-Flores, Marc; Pickett, Brandon D; Rabbani, Keon; Antunes, Agostinho; Balacco, Jennifer R; Chaisson, Mark J P; Cheng, Haoyu; Collins, Joanna; Couture, Melanie; Denisova, Alexandra; Fedrigo, Olivier; Gallo, Guido Roberto; Giani, Alice Maria; Gooder, Grenville MacDonald; Horan, Kathleen; Jain, Nivesh; Johnson, Cassidy; Kim, Heebal; Lee, Chul; Marques-Bonet, Tomas; O'Toole, Brian; Rhie, Arang; Secomandi, Simona; Sozzoni, Marcella; Tilley, Tatiana; Uliano-Silva, Marcela; van den Beek, Marius; Williams, Robert W; Waterhouse, Robert M; Phillippy, Adam M; Jarvis, Erich D; Schatz, Michael C; Nekrutenko, Anton; Formenti, Giulio

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

A High-Quality Blue Whale Genome, Segmental Duplications, and Historical Demography

高质量的蓝鲸基因组、片段重复和历史种群统计学

Bukhman, Yury V; Morin, Phillip A; Meyer, Susanne; Chu, Li-Fang; Jacobsen, Jeff K; Antosiewicz-Bourget, Jessica; Mamott, Daniel; Gonzales, Maylie; Argus, Cara; Bolin, Jennifer; Berres, Mark E; Fedrigo, Olivier; Steill, John; Swanson, Scott A; Jiang, Peng; Rhie, Arang; Formenti, Giulio; Phillippy, Adam M; Harris, Robert S; Wood, Jonathan M D; Howe, Kerstin; Kirilenko, Bogdan M; Munegowda, Chetan; Hiller, Michael; Jain, Aashish; Kihara, Daisuke; Johnston, J Spencer; Ionkov, Alexander; Raja, Kalpana; Toh, Huishi; Lang, Aimee; Wolf, Magnus; Jarvis, Erich D; Thomson, James A; Chaisson, Mark J P; Stewart, Ron

Semi-automated assembly of high-quality diploid human reference genomes

高质量二倍体人类参考基因组的半自动化组装

Erich D Jarvis #, Giulio Formenti #, Arang Rhie, Andrea Guarracino, Chentao Yang, Jonathan Wood, Alan Tracey, Francoise Thibaud-Nissen, Mitchell R Vollger, David Porubsky, Haoyu Cheng, Mobin Asri, Glennis A Logsdon, Paolo Carnevali, Mark J P Chaisson, Chen-Shan Chin, Sarah Cody, Joanna Collins, Pete

The Human Pangenome Project: a global resource to map genomic diversity

人类泛基因组计划:绘制基因组多样性图谱的全球资源

Wang, Ting; Antonacci-Fulton, Lucinda; Howe, Kerstin; Lawson, Heather A; Lucas, Julian K; Phillippy, Adam M; Popejoy, Alice B; Asri, Mobin; Carson, Caryn; Chaisson, Mark J P; Chang, Xian; Cook-Deegan, Robert; Felsenfeld, Adam L; Fulton, Robert S; Garrison, Erik P; Garrison, Nanibaa' A; Graves-Lindsay, Tina A; Ji, Hanlee; Kenny, Eimear E; Koenig, Barbara A; Li, Daofeng; Marschall, Tobias; McMichael, Joshua F; Novak, Adam M; Purushotham, Deepak; Schneider, Valerie A; Schultz, Baergen I; Smith, Michael W; Sofia, Heidi J; Weissman, Tsachy; Flicek, Paul; Li, Heng; Miga, Karen H; Paten, Benedict; Jarvis, Erich D; Hall, Ira M; Eichler, Evan E; Haussler, David

Genetic variation and the de novo assembly of human genomes

遗传变异和人类基因组的从头组装

Chaisson, Mark J P; Wilson, Richard K; Eichler, Evan E

Chondroprotective and anti-inflammatory role of melanocortin peptides in TNF-α activated human C-20/A4 chondrocytes

黑皮质素肽在 TNF-α 激活的人类 C-20/A4 软骨细胞中的软骨保护和抗炎作用

Magdalena K Kaneva, Mark J P Kerrigan, Paolo Grieco, G Paul Curley, Ian C Locke, Stephen J Getting