Multi-platform discovery of haplotype-resolved structural variation in human genomes Article Swipe

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

YOU? · · 2019 · Open Access · · DOI: https://doi.org/10.1038/s41467-018-08148-z

Related Topics

Human Genome

Computational Biology

Biology

Reference Genome

Genomics

Concepts

Indel Structural variation Genome Haplotype 1000 Genomes Project Human genome Computational biology Biology Reference genome Genetics DNA sequencing Human genetic variation Genomics Copy-number variation INDEL Mutation Single-nucleotide polymorphism Gene Genotype

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Type: article
Language: en
Landing Page: https://doi.org/10.1038/s41467-018-08148-z
PDF: https://www.nature.com/articles/s41467-018-08148-z.pdf
OA Status: gold
Cited By: 970
References: 68
Related Works: 10
OpenAlex ID: https://openalex.org/W2949062400

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OpenAlex ID: https://openalex.org/W2949062400

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DOI: https://doi.org/10.1038/s41467-018-08148-z

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Title: Multi-platform discovery of haplotype-resolved structural variation in human genomes

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Type: article

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Language: en

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Publication year: 2019

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Publication date: 2019-04-16

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

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Landing page: https://doi.org/10.1038/s41467-018-08148-z

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PDF URL: https://www.nature.com/articles/s41467-018-08148-z.pdf

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OA status: gold

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Concepts: Indel, Structural variation, Genome, Haplotype, 1000 Genomes Project, Human genome, Computational biology, Biology, Reference genome, Genetics, DNA sequencing, Human genetic variation, Genomics, Copy-number variation, INDEL Mutation, Single-nucleotide polymorphism, Gene, Genotype

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Cited by: 970

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Citations by year (recent): 2025: 77, 2024: 126, 2023: 134, 2022: 146, 2021: 208

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References (count): 68

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Related works (count): 10

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