Hasil Pencarian - Jonathan Sebat

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  1. 1
    Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test.

    Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test. oleh Wonkuk Kim, Derek Gordon, Jonathan Sebat, Kenny Q Ye, Stephen J Finch

    Diterbitkan 2008-01-01
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  2. 2
    The effects of common structural variants on 3D chromatin structure

    The effects of common structural variants on 3D chromatin structure oleh Omar Shanta, Amina Noor, Human Genome Structural Variation Consortium (HGSVC), Jonathan Sebat

    Diterbitkan 2020-01-01
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  3. 3
    Ranking of non-coding pathogenic variants and putative essential regions of the human genome

    Ranking of non-coding pathogenic variants and putative essential regions of the human genome oleh Alex Wells, David Heckerman, Ali Torkamani, Li Yin, Jonathan Sebat, Bing Ren, Amalio Telenti, Julia di Iulio

    Diterbitkan 2019-11-01
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  4. 4
    Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

    Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. oleh Kymberleigh A Pagel, Danny Antaki, AoJie Lian, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac

    Diterbitkan 2019-06-01
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  5. 5
    SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains

    SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains oleh Milad Mortazavi, Yangsu Ren, Shubham Saini, Danny Antaki, Celine L. St. Pierre, April Williams, Abhishek Sohni, Miles F. Wilkinson, Melissa Gymrek, Jonathan Sebat, Abraham A. Palmer

    Diterbitkan 2022-03-01
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  6. 6
    Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

    Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 oleh Vikas Pejaver, Jorge Urresti, Jose Lugo-Martinez, Kymberleigh A. Pagel, Guan Ning Lin, Hyun-Jun Nam, Matthew Mort, David N. Cooper, Jonathan Sebat, Lilia M. Iakoucheva, Sean D. Mooney, Predrag Radivojac

    Diterbitkan 2020-11-01
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  7. 7
    Common DNA sequence variation influences 3-dimensional conformation of the human genome

    Common DNA sequence variation influences 3-dimensional conformation of the human genome oleh David U. Gorkin, Yunjiang Qiu, Ming Hu, Kipper Fletez-Brant, Tristin Liu, Anthony D. Schmitt, Amina Noor, Joshua Chiou, Kyle J. Gaulton, Jonathan Sebat, Yun Li, Kasper D. Hansen, Bing Ren

    Diterbitkan 2019-11-01
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  8. 8
    Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

    Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis oleh Julia TCW, Claudia M.B. Carvalho, Bo Yuan, Shen Gu, Alyssa N. Altheimer, Shane McCarthy, Dheeraj Malhotra, Jonathan Sebat, Arthur J. Siegel, Uwe Rudolph, James R. Lupski, Deborah L. Levy, Kristen J. Brennand

    Diterbitkan 2017-03-01
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  9. 9
    Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes

    Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes oleh Hiroki Kimura, Masahiro Nakatochi, Branko Aleksic, James Guevara, Miho Toyama, Yu Hayashi, Hidekazu Kato, Itaru Kushima, Mako Morikawa, Kanako Ishizuka, Takashi Okada, Yoshinori Tsurusaki, Atsushi Fujita, Noriko Miyake, Tomoo Ogi, Atsushi Takata, Naomichi Matsumoto, Joseph Buxbaum, Norio Ozaki, Jonathan Sebat

    Diterbitkan 2022-07-01
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  10. 10
    Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

    Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development oleh Yuqi Qiu, Thomas Arbogast, Sandra Martin Lorenzo, Hongying Li, Shih C. Tang, Ellen Richardson, Oanh Hong, Shawn Cho, Omar Shanta, Timothy Pang, Christina Corsello, Curtis K. Deutsch, Claire Chevalier, Erica E. Davis, Lilia M. Iakoucheva, Yann Herault, Nicholas Katsanis, Karen Messer, Jonathan Sebat

    Diterbitkan 2019-09-01
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  11. 11
    Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes

    Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes oleh Adam X. Maihofer, Andrew Ratanatharathorn, Sian M. J. Hemmings, Karen H. Costenbader, Vasiliki Michopoulos, Renato Polimanti, Alex O. Rothbaum, Soraya Seedat, Elizabeth A. Mikita, CHARGE Inflammation Working Group, Psychiatric Genomics Consortium PTSD Working Group, Alicia K. Smith, Rany M. Salem, Richard A. Shaffer, Tianying Wu, Jonathan Sebat, Kerry J. Ressler, Murray B. Stein, Karestan C. Koenen, Erika J. Wolf, Jennifer A. Sumner, Caroline M. Nievergelt

    Diterbitkan 2024-04-01
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  12. 12
    Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism

    Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism oleh Roser Corominas, Xinping Yang, Guan Ning Lin, Shuli Kang, Yun Shen, Lila Ghamsari, Martin Broly, Maria Rodriguez, Stanley Tam, Shelly A. Wanamaker, Changyu Fan, Song Yi, Murat Tasan, Irma Lemmens, Xingyan Kuang, Nan Zhao, Dheeraj Malhotra, Jacob J. Michaelson, Vladimir Vacic, Michael A. Calderwood, Frederick P. Roth, Jan Tavernier, Steve Horvath, Kourosh Salehi-Ashtiani, Dmitry Korkin, Jonathan Sebat, David E. Hill, Tong Hao, Marc Vidal, Lilia M. Iakoucheva

    Diterbitkan 2023-02-01
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  13. 13
    Multi-platform discovery of haplotype-resolved structural variation in human genomes

    Multi-platform discovery of haplotype-resolved structural variation in human genomes oleh Mark J. P. Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J. Gardner, Oscar L. Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev N. Kronenberg, Xiangmeng Kong, Fereydoun Hormozdiari, Dillon Lee, Aaron M. Wenger, Alex R. 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 C. Lambert, Deanna M. Church, Laura Clarke, Andrew Farrell, Joey Flores, Timur Galeev, David U. Gorkin, Madhusudan Gujral, Victor Guryev, William 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 Viaud-Martinez, Sascha Meiers, Katherine M. Munson, Fabio C. P. Navarro, Bradley J. Nelson, Conor Nodzak, Amina Noor, Sofia Kyriazopoulou-Panagiotopoulou, Andy W. C. Pang, Yunjiang Qiu, Gabriel Rosanio, Mallory Ryan, Adrian 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 McCarroll, Goo Jun, Li Ding, Chong Lek Koh, Bing Ren, Paul Flicek, Ken Chen, Mark B. Gerstein, Pui-Yan Kwok, Peter M. Lansdorp, Gabor T. 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

    Diterbitkan 2019-04-01
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