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D

David Porubský

university of washington
H指数:46
被引数:1.4万

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Human acrocentric chromosome short-arm de novo mutation and recombination

人类近端着丝粒染色体短臂新生突变和重组

Cell
IF42.5
2026-08-060
OAAI
Jiadong Lin; F. Kumara Mastrorosa; Michelle D. Noyes; DongAhn Yoo; Arang Rhie; David Porubsky; Kendra Hoekzema; Katherine M. Munson; Nidhi Koundinya; W. Scott Watkins; Lynn B. Jorde; Aaron R. Quinlan; Deborah W. Neklason; Adam M. Phillippy; Evan E. Eichler
A global map for introgressed structural variation and selection in humans

人类中渗入结构变异和选择的全球地图

Science
IF45.8
2026-06-110
PRE
PingHsun Hsieh; Natthapon Soisangwan; David S. Gordon; Athef Javidh; William T. Harvey; David Porubsky; Kendra Hoekzema; Carl Baker; Katherine M. Munson; Christopher Kinipi; Matthew Leavesley; Nicolas Brucato; Murray P. Cox; François‐X Ricaut; Irene Gallego Romero; Evan E. Eichler
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

22q11.2染色体重复结构的人群差异对微缺失和倒位的差异化易感性

Nature Communications
IF15.7
2026-04-180
OAAI
David Porubsky; DongAhn Yoo; Nidhi Koundinya; Erika Souche; Philip C. Dishuck; Nicolas Dierckxsens; William T. Harvey; Katherine M. Munson; Kendra Hoekzema; Daniel D. Chan; Tiffany Y. Leung; Marta S. Santos; Senne Meynants; Ann Swillen; Jeroen Breckpot; Vasiliki Tsapalou; Patrick Hasenfeld; Jan O. Korbel; Peter M. Lansdorp; Joris R. Vermeesch; Evan E. Eichler
Author Correction: Complex genetic variation in nearly complete human genomes

作者更正：近完整人类基因组中的复杂遗传变异

Nature
IF48.5
2025-08-260
OAAI
Glennis A. Logsdon; Peter Ebert; Peter A. Audano; Mark Loftus; David Porubsky; Jana Ebler; Feyza Yilmaz; Pille Hallast; Timofey Prodanov; DongAhn Yoo; Carolyn A. Paisie; William T. Harvey; Xuefang Zhao; Gianni V. Martino; Mir Henglin; Katherine M. Munson; Keon Rabbani; Chen-Shan Chin; Bida Gu; Hufsah Ashraf; Stephan Scholz; Olanrewaju Austine-Orimoloye; Parithi Balachandran; Marc Jan Bonder; Haoyu Cheng; Zechen Chong; Jonathan Crabtree; Mark Gerstein; Lisbeth A. Guethlein; Patrick Hasenfeld; Glenn Hickey; Kendra Hoekzema; Sarah E. Hunt; Matthew Jensen; Yunzhe Jiang; Sergey Koren; Youngjun Kwon; Chong Li; Heng Li; Jiaqi Li; Paul J. Norman; Keisuke K. Oshima; Benedict Paten; Adam M. Phillippy; Nicholas R. Pollock; Tobias Rausch; Mikko Rautiainen; Yuwei Song; Arda Söylev; Arvis Sulovari; Likhitha Surapaneni; Vasiliki Tsapalou; Weichen Zhou; Ying Zhou; Qihui Zhu; Michael C. Zody; Ryan E. Mills; Scott E. Devine; Xinghua Shi; Michael E. Talkowski; Mark J. P. Chaisson; Alexander T. Dilthey; Miriam K. Konkel; Jan O. Korbel; Charles Lee; Christine R. Beck; Evan E. Eichler; Tobias Marschall
The Platinum Pedigree: a long-read benchmark for genetic variants

铂金血统：一种用于遗传变异的长读基准

Nature Methods
IF32.1
2025-08-040
OA
Zev Kronenberg; Cillian Nolan; David Porubsky; Tom Mokveld; William J. Rowell; Sangjin Lee; Egor Dolzhenko; Pi-Chuan Chang; James M. Holt; Christopher T. Saunders; Nathan D. Olson; Cody J. Steely; Sean McGee; Andrea Guarracino; Nidhi Koundinya; William T. Harvey; W. Scott Watkins; Katherine M. Munson; Kendra Hoekzema; Khi Pin Chua; Xiao Chen; Cairbre Fanslow; Christine Lambert; Harriet Dashnow; Erik Garrison; Joshua D. Smith; Peter M. Lansdorp; Justin M. Zook; Andrew Carroll; Lynn B. Jorde; Deborah W. Neklason; Aaron R. Quinlan; Evan E. Eichler; Michael A. Eberle
Complex genetic variation in nearly complete human genomes

几乎完整的人类基因组中的复杂遗传变异

Nature
IF48.5
2025-07-230
OA
Glennis A. Logsdon; Peter Ebert; Peter A. Audano; Mark Loftus; David Porubsky; Jana Ebler; Feyza Yilmaz; Pille Hallast; Timofey Prodanov; DongAhn Yoo; Carolyn A. Paisie; William T. Harvey; Xuefang Zhao; Gianni V. Martino; Mir Henglin; Katherine M. Munson; Keon Rabbani; Chen-Shan Chin; Bida Gu; Hufsah Ashraf; Stephan Scholz; Olanrewaju Austine-Orimoloye; Parithi Balachandran; Marc Jan Bonder; Haoyu Cheng; Zechen Chong; Jonathan Crabtree; Mark Gerstein; Lisbeth A. Guethlein; Patrick Hasenfeld; Glenn Hickey; Kendra Hoekzema; Sarah E. Hunt; Matthew Jensen; Yunzhe Jiang; Sergey Koren; Youngjun Kwon; Chong Li; Heng Li; Jiaqi Li; Paul J. Norman; Keisuke K. Oshima; Benedict Paten; Adam M. Phillippy; Nicholas R. Pollock; Tobias Rausch; Mikko Rautiainen; Yuwei Song; Arda Söylev; Arvis Sulovari; Likhitha Surapaneni; Vasiliki Tsapalou; Weichen Zhou; Ying Zhou; Qihui Zhu; Michael C. Zody; Ryan E. Mills; Scott E. Devine; Xinghua Shi; Michael E. Talkowski; Mark J. P. Chaisson; Alexander T. Dilthey; Miriam K. Konkel; Jan O. Korbel; Charles Lee; Christine R. Beck; Evan E. Eichler; Tobias Marschall
Phased nanopore assembly with Shasta and modular graph phasing with GFAse

用Shasta进行的分相纳米孔组装和用GFAse进行的模块化图形分相

GENOME RESEARCH
IF5.5
2024-04-163
OA
Lorig-Roach, Ryan; Meredith, Melissa; Monlong, Jean; Jain, Miten; Olsen, Hugh E.; Mcnulty, Brandy; Porubsky, David; Montague, Tessa G.; Lucas, Julian K.; Condon, Chris; Eizenga, Jordan M.; Juul, Sissel; Mckenzie, Sean K.; Simmonds, Sara E.; Park, Jimin; Asri, Mobin; Koren, Sergey; Eichler, Evan E.; Axel, Richard; Martin, Bruce; Carnevali, Paolo; Miga, Karen H.; Paten, Benedict
The variation and evolution of complete human centromeres

人类完整着丝粒的变异与进化

Nature
IF48.5
2024-04-030
OAAI
Glennis A. Logsdon; Allison N. Rozanski; Fedor Ryabov; Tamara Potapova; Valery A. Shepelev; Claudia R. Catacchio; David Porubsky; Yafei Mao; DongAhn Yoo; Mikko Rautiainen; Sergey Koren; Sergey Nurk; Julian K. Lucas; Kendra Hoekzema; Katherine M. Munson; Jennifer L. Gerton; Adam M. Phillippy; Mario Ventura; Ivan A. Alexandrov; Evan E. Eichler
Assembly of 43 human Y chromosomes reveals extensive complexity and variation
Nature
IF48.5
2023-08-230
PRE
Pille Hallast; Peter Ebert; Mark Loftus; Feyza Yilmaz; Peter A. Audano; Glennis A. Logsdon; Marc Jan Bonder; Weichen Zhou; Wolfram Höps; Kwondo Kim; Chong Li; Savannah J. Hoyt; Philip C. Dishuck; David Porubsky; Fotios Tsetsos; Jee Young Kwon; Qihui Zhu; Katherine M. Munson; Patrick Hasenfeld; William T. Harvey; Alexandra P. Lewis; Jennifer Kordosky; Kendra Hoekzema; Rachel J. O’Neill; Jan O. Korbel; Chris Tyler-Smith; Evan E. Eichler; Xinghua Shi; Christine R. Beck; Tobias Marschall; Miriam K. Konkel; Charles Lee
Increased mutation and gene conversion within human segmental duplications

人类片段重复中的突变和基因转换增加

Nature
IF48.5
2023-05-100
OAAI
Mitchell R. Vollger; Philip C. Dishuck; William T. Harvey; William S. DeWitt; Xavi Guitart; Michael E. Goldberg; Allison N. Rozanski; Julian Lucas; Mobin Asri; Katherine M. Munson; Alexandra P. Lewis; Kendra Hoekzema; Glennis A. Logsdon; David Porubsky; Benedict Paten; Kelley Harris; PingHsun Hsieh; Evan E. Eichler
Pangenome graph construction from genome alignments with Minigraph-Cactus

用minigrap-cactus从基因组比对构建Pangenome图

NATURE BIOTECHNOLOGY
IF41.7
2023-05-1049
OA
Hickey, Glenn; Monlong, Jean; Ebler, Jana; Novak, Adam M.; Eizenga, Jordan M.; Gao, Yan; Marschall, Tobias; Li, Heng; Paten, Benedict; Abel, Haley J.; Antonacci-Fulton, Lucinda L.; Asri, Mobin; Baid, Gunjan; Baker, Carl A.; Belyaeva, Anastasiya; Billis, Konstantinos; Bourque, Guillaume; Buonaiuto, Silvia; Carroll, Andrew; Chaisson, Mark J. P.; Chang, Pi-Chuan; Chang, Xian H.; Cheng, Haoyu; Chu, Justin; Cody, Sarah; Colonna, Vincenza; Cook, Daniel E.; Cook-Deegan, Robert M.; Cornejo, Omar E.; Diekhans, Mark; Doerr, Daniel; Ebert, Peter; Ebler, Jana; Eichler, Evan E.; Eizenga, Jordan M.; Fairley, Susan; Fedrigo, Olivier; Felsenfeld, Adam L.; Feng, Xiaowen; Fischer, Christian; Flicek, Paul; Formenti, Giulio; Frankish, Adam; Fulton, Robert S.; Gao, Yan; Garg, Shilpa; Garrison, Erik; Garrison, Nanibaa' A.; Giron, Carlos Garcia; Green, Richard E.; Groza, Cristian; Guarracino, Andrea; Haggerty, Leanne; Hall, Ira M.; Harvey, William T.; Haukness, Marina; Haussler, David; Heumos, Simon; Hickey, Glenn; Hoekzema, Kendra; Hourlier, Thibaut; Howe, Kerstin; Jain, Miten; Jarvis, Erich D.; Ji, Hanlee P.; Kenny, Eimear E.; Koenig, Barbara A.; Kolesnikov, Alexey; Korbel, Jan O.; Kordosky, Jennifer; Koren, Sergey; Lee, HoJoon; Lewis, Alexandra P.; Liao, Wen-Wei; Lu, Shuangjia; Lu, Tsung-Yu; Lucas, Julian K.; Hugo, Magalhaes; Santiago, Marco-Sola; Marijon, Pierre; Markello, Charles; Marschall, Tobias; Martin, Fergal J.; McCartney, Ann; McDaniel, Jennifer; Miga, Karen H.; Mitchell, Matthew W.; Monlong, Jean; Mountcastle, Jacquelyn; Munson, Katherine M.; Mwaniki, Moses Njagi; Nattestad, Maria; Novak, Adam M.; Nurk, Sergey; Olsen, Hugh E.; Olson, Nathan D.; Pesout, Trevor; Phillippy, Adam M.; Popejoy, Alice B.; Porubsky, David; Prins, Pjotr; Puiu, Daniela; Rautiainen, Mikko; Regier, Allison A.; Rhie, Arang; Sacco, Samuel; Sanders, Ashley D.; Schneider, Valerie A.; Schultz, Baergen, I; Shafin, Kishwar; Sibbesen, Jonas A.; Siren, Jouni; Smith, Michael W.; Sofia, Heidi J.; Abou Tayoun, Ahmad N.; Thibaud-Nissen, Francoise; Tomlinson, Chad; Tricomi, Francesca Floriana; Villani, Flavia; Vollger, Mitchell R.; Wagner, Justin; Walenz, Brian; Wang, Ting; Wood, Jonathan M. D.; Zimin, Aleksey, V; Zook, Justin M.
A draft human pangenome reference

人类pangenome参考草案

Nature
IF48.5
2023-05-100
OAAI
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 Garg; Cristian Groza; Andrea Guarracino; William T. Harvey; Simon Heumos; Kerstin Howe; Miten Jain; Tsung-Yu Lu; Charles Markello; Fergal J. Martin; Matthew W. Mitchell; Katherine M. Munson; Moses Njagi Mwaniki; Adam M. Novak; Hugh E. Olsen; Trevor Pesout; David Porubsky; Pjotr Prins; Jonas A. Sibbesen; Jouni Sirén; Chad Tomlinson; Flavia Villani; Mitchell R. Vollger; Lucinda L. Antonacci-Fulton; Gunjan Baid; Carl A. Baker; Anastasiya Belyaeva; Konstantinos Billis; Andrew Carroll; Pi-Chuan Chang; Sarah Cody; Daniel E. Cook; Robert M. Cook-Deegan; Omar E. Cornejo; Mark Diekhans; Peter Ebert; Susan Fairley; Olivier Fedrigo; Adam L. Felsenfeld; Giulio Formenti; Adam Frankish; Yan Gao; Nanibaa’ A. Garrison; Carlos Garcia Giron; Richard E. Green; Leanne Haggerty; Kendra Hoekzema; Thibaut Hourlier; Hanlee P. Ji; Eimear E. Kenny; Barbara A. Koenig; Alexey Kolesnikov; Jan O. Korbel; Jennifer Kordosky; Sergey Koren; HoJoon Lee; Alexandra P. Lewis; Hugo Magalhães; Santiago Marco-Sola; Pierre Marijon; Ann McCartney; Jennifer McDaniel; Jacquelyn Mountcastle; Maria Nattestad; Sergey Nurk; Nathan D. Olson; Alice B. Popejoy; Daniela Puiu; Mikko Rautiainen; Allison A. Regier; Arang Rhie; Samuel Sacco; Ashley D. Sanders; Valerie A. Schneider; Baergen I. Schultz; Kishwar Shafin; Michael W. Smith; Heidi J. Sofia; Ahmad N. Abou Tayoun; Françoise Thibaud-Nissen; Francesca Floriana Tricomi; Justin Wagner; Brian Walenz; Jonathan M. D. Wood; Aleksey V. Zimin; Guillaume Bourque; Mark J. P. Chaisson; Paul Flicek; Adam M. Phillippy; Justin M. Zook; Evan E. Eichler; David Haussler; Ting Wang; Erich D. Jarvis; Karen H. Miga; Erik Garrison; Tobias Marschall; Ira M. Hall; Heng Li; Benedict Paten
Functional analysis of structural variants in single cells using Strand-seq

使用strne-seq对单细胞中的结构变体进行功能分析

NATURE BIOTECHNOLOGY
IF41.7
2022-11-2416
OAAI
Jeong, Hyobin; Grimes, Karen; Rauwolf, Kerstin K.; Bruch, Peter-Martin; Rausch, Tobias; Hasenfeld, Patrick; Benito, Eva; Roider, Tobias; Sabarinathan, Radhakrishnan; Porubsky, David; Herbst, Sophie A.; Erarslan-Uysal, Busra; Jann, Johann-Christoph; Marschall, Tobias; Nowak, Daniel; Bourquin, Jean-Pierre; Kulozik, Andreas E.; Dietrich, Sascha; Bornhauser, Beat; Sanders, Ashley D.; Korbel, Jan O.
Sister chromatid exchanges induced by perturbed replication can form independently of BRCA1, BRCA2 and RAD51
NATURE COMMUNICATIONS
IF15.7
2022-11-0718
OAAI
Heijink, Anne Margriet; Stok, Colin; Porubsky, David; Manolika, Eleni Maria; de Kanter, Jurrian K.; Kok, Yannick P.; Everts, Marieke; de Boer, H. Rudolf; Audrey, Anastasia; Bakker, Femke J.; Wierenga, Elles; Tijsterman, Marcel; Guryev, Victor; Spierings, Diana C. J.; Knipscheer, Puck; van Boxtel, Ruben; Chaudhuri, Arnab Ray; Lansdorp, Peter M.; van Vugt, Marcel A. T. M.

研究方向

暂未获取到该数据
E
Evan E. Eichler
H 指数:191论文数:877被引数:20.8万
K
Katherine M. Munson
H 指数:44论文数:125被引数:1.1万
T
Tobias Marschall
H 指数:56论文数:244被引数:2.1万
J
Jan O. Korbel
H 指数:117论文数:453被引数:11.5万
A
Ashley D. Sanders
H 指数:31论文数:99被引数:6,638
P
Peter M. Lansdorp
H 指数:100论文数:417被引数:4.4万
B
Benedict Paten
H 指数:95论文数:370被引数:5.0万
S
Sergey Koren
H 指数:87论文数:323被引数:7.2万
P
Peter Ebert
H 指数:39论文数:188被引数:9,207
V
Victor Guryev
H 指数:56论文数:306被引数:1.5万