檢索結果 - Luis A. Rubio‐Rodríguez

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  1. 1
    Small variant benchmark from a complete assembly of X and Y chromosomes

    Small variant benchmark from a complete assembly of X and Y chromosomes 由 Justin Wagner, Nathan D. Olson, Jennifer McDaniel, Lindsay Harris, Brendan J. Pinto, David Jáspez, Adrián Muñoz‐Barrera, Luis A. Rubio‐Rodríguez, José M. Lorenzo-Salazar, Carlos Flores, Sayed Mohammad Ebrahim Sahraeian, Giuseppe Narzisi, Marta Byrska-Bishop, Uday S. Evani, Chunlin Xiao, Juniper A. Lake, Peter Fontana, Craig S. Greenberg, Donald Freed, Mohammed Faizal Eeman Mootor, Paul C. Boutros, Lisa Murray, Kishwar Shafin, Andrew Carroll, Fritz J. Sedlazeck, Melissa A. Wilson, Justin M. Zook

    出版 2025
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  2. 2
    Curated variation benchmarks for challenging medically relevant autosomal genes

    Curated variation benchmarks for challenging medically relevant autosomal genes 由 Justin Wagner, Nathan D. Olson, Lindsay Harris, Jennifer McDaniel, Haoyu Cheng, Arkarachai Fungtammasan, Yih-Chii Hwang, Richa Gupta, Aaron M. Wenger, William J. Rowell, Ziad Khan, Jesse Farek, Yiming Zhu, Aishwarya Pisupati, Medhat Mahmoud, Chunlin Xiao, Byunggil Yoo, Sayed Mohammad Ebrahim Sahraeian, Danny E. Miller, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz‐Barrera, Luis A. Rubio‐Rodríguez, Carlos Flores, Giuseppe Narzisi, Uday S. Evani, Wayne E. Clarke, Joyce Lee, Christopher E. Mason, Stephen E. Lincoln, Karen H. Miga, Mark Ebbert, Alaina Shumate, Heng Li, Chen-Shan Chin, Justin M. Zook, Fritz J. Sedlazeck

    出版 2022
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  3. 3
    PCSK6 and Survival in Idiopathic Pulmonary Fibrosis

    PCSK6 and Survival in Idiopathic Pulmonary Fibrosis 由 Justin M. Oldham, Richard J. Allen, José M. Lorenzo-Salazar, Philip L. Molyneaux, Shwu‐Fan Ma, Chitra Joseph, John S. Kim, Beatriz Guillén‐Guío, Tamara Hernández-Beeftink, Jonathan A. Kropski, Yong Huang, Cathryn T. Lee, Ayodeji Adegunsoye, Janelle Vu Pugashetti, A. Linderholm, Vivian Vo, Mary E. Strek, Jonathan Jou, Adrián Muñoz‐Barrera, Luis A. Rubio‐Rodríguez, Richard Hubbard, Nik Hirani, Moira K. B. Whyte, Simon P. Hart, Andrew G. Nicholson, Lisa Lancaster, Helen Parfrey, Doris M. Rassl, William H. Wallace, Eleanor Valenzi, Yingze Zhang, Josyf C. Mychaleckyj, Amy Stockwell, Naftali Kaminski, Paul J. Wolters, María Molina‐Molina, Nicholas E. Banovich, William A. Fahy, Fernando J. Martínez, Ian P. Hall, Martin D. Tobin, Toby M. Maher, Timothy S. Blackwell, Brian L. Yaspan, Gisli Jenkins, Carlos Flores, Louise V. Wain, Imre Noth

    出版 2023
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  4. 4
    precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions

    precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions 由 Nathan D. Olson, Justin Wagner, Jennifer McDaniel, Sarah H. Stephens, Samuel T. Westreich, Anish G. Prasanna, Elaine Johanson, Emily S. Boja, Ezekiel J. Maier, Omar Serang, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz‐Barrera, Luis A. Rubio‐Rodríguez, Carlos Flores, Konstantinos Kyriakidis, Andigoni Malousi, Kishwar Shafin, Trevor Pesout, Miten Jain, Benedict Paten, Pi-Chuan Chang, Alexey Kolesnikov, Maria Nattestad, Gunjan Baid, Sidharth Goel, Howard H. Yang, Andrew Carroll, Robert Eveleigh, Mathieu Bourgey, Guillaume Bourque, Gen Li, MA ChouXian, LinQi Tang, DU YuanPing, Shaowei Zhang, Jordi Morata, Raúl Tonda, Genı́s Parra, Jean-Rémi Trotta, Christian Brueffer, Sinem Demirkaya-Budak, Duygu Kabakci-Zorlu, Deniz Turgut, Özem Kalay, Güngör Budak, Kübra Narcı, Elif Acar Arslan, Matthew A. Brown, Ivan J. Johnson, Alexey Dolgoborodov, Vladimir Semenyuk, Amit Jain, H. Serhat Tetikol, Varun Jain, Mike Ruehle, Bryan R. Lajoie, Cooper Roddey, Severine Catreux, Rami Mehio, Mian Umair Ahsan, Qian Liu, Kai Wang, Sayed Mohammad Ebrahim Sahraeian, Li Tai Fang, Marghoob Mohiyuddin, Calvin Hung, Chirag Jain, Hanying Feng, Zhipan Li, Luoqi Chen, Fritz J. Sedlazeck, Justin M. Zook

    出版 2020
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  5. 5
    PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions

    PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions 由 Nathan D. Olson, Justin Wagner, Jennifer McDaniel, Sarah H. Stephens, Samuel T. Westreich, Anish G. Prasanna, Elaine Johanson, Emily S. Boja, Ezekiel J. Maier, Omar Serang, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz‐Barrera, Luis A. Rubio‐Rodríguez, Carlos Flores, Konstantinos Kyriakidis, Andigoni Malousi, Kishwar Shafin, Trevor Pesout, Miten Jain, Benedict Paten, Pi-Chuan Chang, Alexey Kolesnikov, Maria Nattestad, Gunjan Baid, Sidharth Goel, Howard H. Yang, Andrew Carroll, Robert Eveleigh, Mathieu Bourgey, Guillaume Bourque, Gen Li, Chouxian Ma, LinQi Tang, Yuanping Du, Shaowei Zhang, Jordi Morata, Raúl Tonda, Genı́s Parra, Jean-Rémi Trotta, Christian Brueffer, Sinem Demirkaya-Budak, Duygu Kabakci-Zorlu, Deniz Turgut, Özem Kalay, Güngör Budak, Kübra Narcı, Elif Acar Arslan, Matthew A. Brown, Ivan J. Johnson, Alexey Dolgoborodov, Vladimir Semenyuk, Amit Jain, H. Serhat Tetikol, Varun Jain, Mike Ruehle, Bryan R. Lajoie, Cooper Roddey, Severine Catreux, Rami Mehio, Mian Umair Ahsan, Qian Liu, Kai Wang, Sayed Mohammad Ebrahim Sahraeian, Li Tai Fang, Marghoob Mohiyuddin, Calvin Hung, Chirag Jain, Hanying Feng, Zhipan Li, Luoqi Chen, Fritz J. Sedlazeck, Justin M. Zook

    出版 2022
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