Peter A. Audano - Publications, H-index & Citations

Peter A. Audano

The Jackson Laboratory

27H指数

65论文数

5.2K被引数

收录论文 16

发表时间

Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing 利用长读长测序对罕见儿科疾病进行临床基因组重分析的诊断价值

Human Genetics and Genomics Advances

IF3.6

2026-04-27

OAAI

Elizabeth A. Werren; Purva Vats; Gabriel E. Rech; Michael Peracchio; Cameron King; Elizabeth J. Charnysh; Ryan D. Gorham; Peter A. Audano; Peter N. Robinson; Melissa A. Kelly; Adam P. Matson; Mark D. Adams; Louisa Kalsner

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

2025-08-26

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

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

2025-07-23

OAAI

Utility of long-read sequencing for All of Us

NATURE COMMUNICATIONS

IF15.7

2024-01-29

OAAI

Mahmoud, M.; Huang, Y.; Garimella, K.; Audano, P. A.; Wan, W.; Prasad, N.; Handsaker, R. E.; Hall, S.; Pionzio, A.; Schatz, M. C.; Talkowski, M. E.; Eichler, E. E.; Levy, S. E.; Sedlazeck, F. J.

Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement

GENOME RESEARCH

IF5.5

2024-01-04

OAAI

Audano, Peter A.; Beck, Christine R.

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

GENOME RESEARCH

IF5.5

2023-12-07

OAAI

Harvey, William T.; Ebert, Peter; Ebler, Jana; Audano, Peter A.; Munson, Katherine M.; Hoekzema, Kendra; Porubsky, David; Beck, Christine R.; Marschall, Tobias; Garimella, Kiran; Eichler, Evan E.

Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements

CELL GENOMICS

IF9

2023-05-01

OAAI

Ferraj, Ardian; Audano, Peter A.; Balachandran, Parithi; Czechanski, Anne; Flores, Jacob I.; Radecki, Alexander A.; Mosur, Varun; Gordon, David S.; Walawalkar, Isha A.; Eichler, Evan E.; Reinholdt, Laura G.; Beck, Christine R.

Transposable element-mediated rearrangements are prevalent in human genomes 转座因子介导的重排在人类基因组中很普遍

NATURE COMMUNICATIONS

IF15.7

2022-11-19

OAAI

Balachandran, Parithi; Walawalkar, Isha A.; Flores, Jacob, I; Dayton, Jacob N.; Audano, Peter A.; Beck, Christine R.

SVision: a deep learning approach to resolve complex structural variants SVision: 一种解决复杂结构变体的深度学习方法

NATURE METHODS

IF32.1

2022-09-16

OAAI

Lin, Jiadong; Wang, Songbo; Audano, Peter A.; Meng, Deyu; Flores, Jacob, I; Kosters, Walter; Yang, Xiaofei; Jia, Peng; Marschall, Tobias; Beck, Christine R.; Ye, Kai

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

NATURE GENETICS

IF31.8

2022-04-11

OAAI

Ebler, Jana; Ebert, Peter; Clarke, Wayne E.; Rausch, Tobias; Audano, Peter A.; Houwaart, Torsten; Mao, Yafei; Korbel, Jan O.; Eichler, Evan E.; Zody, Michael C.; Dilthey, Alexander T.; Marschall, Tobias

Familial long-read sequencing increases yield of de novo mutations

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-04-01

OAAI

Noyes, Michelle D.; Harvey, William T.; Porubsky, David; Sulovari, Arvis; Li, Ruiyang; Rose, Nicholas R.; Audano, Peter A.; Munson, Katherine M.; Lewis, Alexandra P.; Hoekzema, Kendra; Mantere, Tuomo; Graves-Lindsay, Tina A.; Sanders, Ashley D.; Goodwin, Sara; Kramer, Melissa; Mokrab, Younes; Zody, Michael C.; Hoischen, Alexander; Korbel, Jan O.; McCombie, W. Richard; Eichler, Evan E.

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies 从长读段组装和短读段基因组测序技术检测结构变异的期望和盲点

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-05-01

OAAI

Zhao, Xuefang; Collins, Ryan L.; Lee, Wan-Ping; Weber, Alexandra M.; Jun, Yukyung; Zhu, Qihui; Weisburd, Ben; Huang, Yongqing; Audano, Peter A.; Wang, Harold; Walker, Mark; Lowther, Chelsea; Fu, Jack; Consortium, Human Genome Structural Variation; Gerstein, Mark B.; Devine, Scott E.; Marschall, Tobias; Korbel, Jan O.; Eichler, Evan E.; Chaisson, Mark J. P.; Lee, Charles; Mills, Ryan E.; Brand, Harrison; Talkowski, Michael E.

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads 使用单细胞链测序和长读取的无亲本数据的全阶段人类基因组组装

NATURE BIOTECHNOLOGY

IF41.7

2020-12-07

105

OAAI

Porubsky, David; Ebert, Peter; Audano, Peter A.; Vollger, Mitchell R.; Harvey, William T.; Marijon, Pierre; Ebler, Jana; Munson, Katherine M.; Sorensen, Melanie; Sulovari, Arvis; Haukness, Marina; Ghareghani, Maryam; Lansdorp, Peter M.; Paten, Benedict; Devine, Scott E.; Sanders, Ashley D.; Lee, Charles; Chaisson, Mark J. P.; Korbel, Jan O.; Eichler, Evan E.; Marschall, Tobias

Human-specific tandem repeat expansion and differential gene expression during primate evolution

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2019-10-28

OAAI

Sulovari, Arvis; Li, Ruiyang; Audano, Peter A.; Porubsky, David; Vollger, Mitchell R.; Logsdon, Glennis A.; Warren, Wesley C.; Pollen, Alex A.; Chaisson, Mark J. P.; Eichler, Evan E.

Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants

NATURE COMMUNICATIONS

IF15.7

2019-09-17

OAAI

He, Yaoxi; Luo, Xin; Zhou, Bin; Hu, Ting; Meng, Xiaoyu; Audano, Peter A.; Kronenberg, Zev N.; Eichler, Evan E.; Jin, Jie; Guo, Yongbo; Yang, Yanan; Qi, Xuebin; Su, Bing

Multi-platform discovery of haplotype-resolved structural variation in human genomes 人类基因组单倍型解析结构变异的多平台发现

NATURE COMMUNICATIONS

IF15.7

2019-04-16

547

OAAI

Chaisson, Mark J. P.; Sanders, Ashley D.; Zhao, Xuefang; Malhotra, Ankit; Porubsky, David; Rausch, Tobias; Gardner, Eugene J.; Rodriguez, Oscar L.; Guo, Li; Collins, Ryan L.; Fan, Xian; Wen, Jia; Handsaker, Robert E.; Fairley, Susan; Kronenberg, Zev N.; Kong, Xiangmeng; Hormozdiari, Fereydoun; Lee, Dillon; Wenger, Aaron M.; Hastie, Alex R.; Antaki, Danny; Anantharaman, Thomas; Audano, Peter A.; Brand, Harrison; Cantsilieris, Stuart; Cao, Han; Cerveira, Eliza; Chen, Chong; Chen, Xintong; Chin, Chen-Shan; Chong, Zechen; Chuang, Nelson T.; Lambert, Christine C.; Church, Deanna M.; Clarke, Laura; Farrell, Andrew; Flores, Joey; Galeev, Timur; Gorkin, David U.; Gujral, Madhusudan; Guryev, Victor; Heaton, William Haynes; Korlach, Jonas; Kumar, Sushant; Kwon, Jee Young; Lam, Ernest T.; Lee, Jong Eun; Lee, Joyce; Lee, Wan-Ping; Lee, Sau Peng; Li, Shantao; Marks, Patrick; Viaud-Martinez, Karine; Meiers, Sascha; Munson, Katherine M.; Navarro, Fabio C. P.; Nelson, Bradley J.; Nodzak, Conor; Noor, Amina; Kyriazopoulou-Panagiotopoulou, Sofia; Pang, Andy W. C.; Qiu, Yunjiang; Rosanio, Gabriel; Ryan, Mallory; Stuetz, Adrian; Spierings, Diana C. J.; Ward, Alistair; Welch, AnneMarie E.; Xiao, Ming; Xu, Wei; Zhang, Chengsheng; Zhu, Qihui; Zheng-Bradley, Xiangqun; Lowy, Ernesto; Yakneen, Sergei; McCarroll, Steven; Jun, Goo; Ding, Li; Koh, Chong Lek; Ren, Bing; Flicek, Paul; Chen, Ken; Gerstein, Mark B.; Kwok, Pui-Yan; Lansdorp, Peter M.; Marth, Gabor T.; Sebat, Jonathan; Shi, Xinghua; Bashir, Ali; Ye, Kai; Devine, Scott E.; Talkowski, Michael E.; Mills, Ryan E.; Marschall, Tobias; Korbel, Jan O.; Eichler, Evan E.; Lee, Charles

研究方向