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

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

22q11.2染色体重复结构的群体差异导致其对微缺失和倒位的易感性不同。

Porubsky, David; Yoo, DongAhn; Koundinya, Nidhi; Souche, Erika; Dishuck, Philip C; Dierckxsens, Nicolas; Harvey, William T; Munson, Katherine M; Hoekzema, Kendra; Chan, Daniel D; Leung, Tiffany Y; Santos, Marta S; Meynants, Senne; Swillen, Ann; Breckpot, Jeroen; Tsapalou, Vasiliki; Hasenfeld, Patrick; Korbel, Jan O; Lansdorp, Peter M; Vermeesch, Joris R; Eichler, Evan E

A family portrait of the genomic factors shaping tandem repeat mutagenesis

串联重复突变发生的基因组因素家族图景

Sasani, Thomas A; Goldberg, Michael E; Avvaru, Akshay K; Nicholas, Thomas J; Neklason, Deborah W; Dolzhenko, Egor; Mokveld, Tom; Munson, Katherine M; Hoekzema, Kendra; Ayllon, Marcelo; Kaufman, Eli J; Porubsky, David; Valdmanis, Paul N; Eichler, Evan E; Quinlan, Aaron R; Dashnow, Harriet

NPEPPS segmental duplication drives position effect expression of TBC1D3 in the human brain

NPEPPS 片段重复驱动人脑中 TBC1D3 的位置效应表达

Guitart, Xavi; Brunner, Jessie W; Ren, Luyao; Jeong, Hyeonsoo; Yoo, DongAhn; Porubsky, David; Hoekzema, Kendra; Munson, Katherine M; Sun, Kaitlyn A; Ayllon, Marcelo; Hoglin, Kaylynn; McMullen, Reed; Pavlovic, Bryan; Vollger, Mitchell R; Pollen, Alex A; Eichler, Evan E

Distinct mechanisms of CNV formation at the human 15q13.3 locus

人类15q13.3位点CNV形成的不同机制

Höps, Wolfram; Porubsky, David; Yoo, DongAhn; de Groot, Michelle; den Ouden, Amber; Derks, Ronny; Hoekzema, Kendra; Hoischen, Alexander; Yntema, Helger G; Caro, Pilar; De Falco, Alessandro; van Bon, Bregje; Brunetti-Pierri, Nicola; Schaaf, Christian P; Eichler, Evan E; Gilissen, Christian

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

Complete sequencing of ape genomes

猿类基因组的完全测序

Yoo, DongAhn; Rhie, Arang; Hebbar, Prajna; Antonacci, Francesca; Logsdon, Glennis A; Solar, Steven J; Antipov, Dmitry; Pickett, Brandon D; Safonova, Yana; Montinaro, Francesco; Luo, Yanting; Malukiewicz, Joanna; Storer, Jessica M; Lin, Jiadong; Sequeira, Abigail N; Mangan, Riley J; Hickey, Glenn; Monfort Anez, Graciela; Balachandran, Parithi; Bankevich, Anton; Beck, Christine R; Biddanda, Arjun; Borchers, Matthew; Bouffard, Gerard G; Brannan, Emry; Brooks, Shelise Y; Carbone, Lucia; Carrel, Laura; Chan, Agnes P; Crawford, Juyun; Diekhans, Mark; Engelbrecht, Eric; Feschotte, Cedric; Formenti, Giulio; Garcia, Gage H; de Gennaro, Luciana; Gilbert, David; Green, Richard E; Guarracino, Andrea; Gupta, Ishaan; Haddad, Diana; Han, Junmin; Harris, Robert S; Hartley, Gabrielle A; Harvey, William T; Hiller, Michael; Hoekzema, Kendra; Houck, Marlys L; Jeong, Hyeonsoo; Kamali, Kaivan; Kellis, Manolis; Kille, Bryce; Lee, Chul; Lee, Youngho; Lees, William; Lewis, Alexandra P; Li, Qiuhui; Loftus, Mark; Loh, Yong Hwee Eddie; Loucks, Hailey; Ma, Jian; Mao, Yafei; Martinez, Juan F I; Masterson, Patrick; McCoy, Rajiv C; McGrath, Barbara; McKinney, Sean; Meyer, Britta S; Miga, Karen H; Mohanty, Saswat K; Munson, Katherine M; Pal, Karol; Pennell, Matt; Pevzner, Pavel A; Porubsky, David; Potapova, Tamara; Ringeling, Francisca R; Rocha, Joana L; Ryder, Oliver A; Sacco, Samuel; Saha, Swati; Sasaki, Takayo; Schatz, Michael C; Schork, Nicholas J; Shanks, Cole; Smeds, Linnéa; Son, Dongmin R; Steiner, Cynthia; Sweeten, Alexander P; Tassia, Michael G; Thibaud-Nissen, Françoise; Torres-González, Edmundo; Trivedi, Mihir; Wei, Wenjie; Wertz, Julie; Yang, Muyu; Zhang, Panpan; Zhang, Shilong; Zhang, Yang; Zhang, Zhenmiao; Zhao, Sarah A; Zhu, Yixin; Jarvis, Erich D; Gerton, Jennifer L; Rivas-González, Iker; Paten, Benedict; Szpiech, Zachary A; Huber, Christian D; Lenz, Tobias L; Konkel, Miriam K; Yi, Soojin V; Canzar, Stefan; Watson, Corey T; Sudmant, Peter H; Molloy, Erin; Garrison, Erik; Lowe, Craig B; Ventura, Mario; O'Neill, Rachel J; Koren, Sergey; Makova, Kateryna D; Phillippy, Adam M; Eichler, Evan E

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

Standard Poster Abstracts for the 17th Asia Pacific Heart Rhythm Society (APHRS) Scientific Sessions

第十七届亚太心律学会(APHRS)科学会议标准海报摘要

Mao, Yafei; Harvey, William T; Porubsky, David; Munson, Katherine M; Hoekzema, Kendra; Lewis, Alexandra P; Audano, Peter A; Rozanski, Allison; Yang, Xiangyu; Zhang, Shilong; Yoo, DongAhn; Gordon, David S; Fair, Tyler; Wei, Xiaoxi; Logsdon, Glennis A; Haukness, Marina; Dishuck, Philip C; Jeong, Hyeonsoo; Del Rosario, Ricardo; Bauer, Vanessa L; Fattor, Will T; Wilkerson, Gregory K; Mao, Yuxiang; Shi, Yongyong; Sun, Qiang; Lu, Qing; Paten, Benedict; Bakken, Trygve E; Pollen, Alex A; Feng, Guoping; Sawyer, Sara L; Warren, Wesley C; Carbone, Lucia; Eichler, Evan E

The Platinum Pedigree: a long-read benchmark for genetic variants

白金谱系:基因变异的长读长基准

Kronenberg, Zev; Nolan, Cillian; Porubsky, David; Mokveld, Tom; Rowell, William J; Lee, Sangjin; Dolzhenko, Egor; Chang, Pi-Chuan; Holt, James M; Saunders, Christopher T; Olson, Nathan D; Steely, Cody J; McGee, Sean; Guarracino, Andrea; Koundinya, Nidhi; Harvey, William T; Watkins, W Scott; Munson, Katherine M; Hoekzema, Kendra; Chua, Khi Pin; Chen, Xiao; Fanslow, Cairbre; Lambert, Christine; Dashnow, Harriet; Garrison, Erik; Smith, Joshua D; Lansdorp, Peter M; Zook, Justin M; Carroll, Andrew; Jorde, Lynn B; Neklason, Deborah W; Quinlan, Aaron R; Eichler, Evan E; Eberle, Michael A

SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies

SVbyEye:一种用于表征全基因组组装结构变异的可视化工具

Porubsky, David; Guitart, Xavi; Yoo, DongAhn; Dishuck, Philip C; Harvey, William T; Eichler, Evan E