Hasil Pencarian - Hunter Best

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  1. 1
    P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing*

    P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing* oleh Lucilla Pizzo, Tracey Lewis, Ashini Bolia, Brendan O'Fallon, Erica Andersen, Hunter Best

    Diterbitkan 2024-01-01
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  2. 2
    Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

    Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data oleh Brendan O’Fallon, Jacob Durtschi, Ana Kellogg, Tracey Lewis, Devin Close, Hunter Best

    Diterbitkan 2022-07-01
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  3. 3
    P542: Overcoming polymer-induced variation in fragile X and Huntington disease repeat expansion assays

    P542: Overcoming polymer-induced variation in fragile X and Huntington disease repeat expansion assays oleh Scott Reading, Mohamed Jama, Pinar Bayrak-Toydemir, Hunter Best, Eric Fredrickson, Makenzie Fulmer, Rong Mao, Sherin Shaaban, Yuan Ji

    Diterbitkan 2023-01-01
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  4. 4
    Pulmonary veno-occlusive disease: Two children with gradual disease progression

    Pulmonary veno-occlusive disease: Two children with gradual disease progression oleh Ronald W. Day, Parker W. Clement, Aimee O. Hersh, Susan M. Connors, Kelli L. Sumner, D. Hunter Best, Mouied Alashari

    Diterbitkan 2017-01-01
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  5. 5
    Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

    Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants oleh Joseph Reiley, Pablo Botas, Christine E. Miller, Jian Zhao, Sabrina Malone Jenkins, Hunter Best, Peter H. Grubb, Rong Mao, Julián Isla, Luca Brunelli

    Diterbitkan 2023-06-01
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  6. 6
    Effective variant filtering and expected candidate variant yield in studies of rare human disease

    Effective variant filtering and expected candidate variant yield in studies of rare human disease oleh Brent S. Pedersen, Joe M. Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Martin Tristani-Firouzi, Joshua D. Schiffman, Tatiana Tvrdik, Rong Mao, D. Hunter Best, Pinar Bayrak-Toydemir, Aaron R. Quinlan

    Diterbitkan 2021-07-01
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  7. 7
    P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation

    P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation oleh Nicholas Carr, Luca Brunelli, Makenzie Fulmer, Jennifer Rumpel, Abhishek Makkar, Burhan Mahmood, Sarah Keene, Natalie Rintoul, K. Taylor Wild, Amir Ashrafi, Semsa Gogcu, Carrie Rau, David Pattison, Hunter Best, Steven Boyden, Rong Mao

    Diterbitkan 2024-01-01
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  8. 8
    Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program

    Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program oleh Sabrina Malone Jenkins, Rachel Palmquist, Ashley L. Kapron, Carrie Torr, D. Hunter Best, Mary Anne Karren, Luca Brunelli, Mark Yandell, Martin Tristani-Firouzi, David Dimmock, Brian Watts, Jeffrey R. Botkin, Ann Johnson, Joshua L. Bonkowsky

    Diterbitkan 2021-01-01
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  9. 9
    P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2

    P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2 oleh Barry Moore, Thomas Nicholas, Rong Mao, Brian Shayota, Steven Boyden, Chelsea Solorzano, Rachel Palmquist, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Eric Fredrickson, Kelsey Nicholson, David Pattison, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Betsy Ostrander, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky, Sabrina Malone-Jenkins

    Diterbitkan 2023-01-01
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  10. 10
    P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care

    P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care oleh Sabrina Malone-Jenkins, Brian Shayota, Chelsea Solorzano, Rachel Palmquist, Steven Boyden, Barry Moore, Thomas Nicholas, Rong Mao, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Najla Al-Sweel, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Eric Fredrickson, Kelsey Nicholson, David Pattison, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky

    Diterbitkan 2023-01-01
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  11. 11
    Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

    Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions oleh Binsheng Gong, Dan Li, Rebecca Kusko, Natalia Novoradovskaya, Yifan Zhang, Shangzi Wang, Carlos Pabón-Peña, Zhihong Zhang, Kevin Lai, Wanshi Cai, Jennifer S. LoCoco, Eric Lader, Todd A. Richmond, Vinay K. Mittal, Liang-Chun Liu, Donald J. Johann, James C. Willey, Pierre R. Bushel, Ying Yu, Chang Xu, Guangchun Chen, Daniel Burgess, Simon Cawley, Kristina Giorda, Nathan Haseley, Fujun Qiu, Katherine Wilkins, Hanane Arib, Claire Attwooll, Kevin Babson, Longlong Bao, Wenjun Bao, Anne Bergstrom Lucas, Hunter Best, Ambica Bhandari, Halil Bisgin, James Blackburn, Thomas M. Blomquist, Lisa Boardman, Blake Burgher, Daniel J. Butler, Chia-Jung Chang, Alka Chaubey, Tao Chen, Marco Chierici, Christopher R. Chin, Devin Close, Jeffrey Conroy, Jessica Cooley Coleman, Daniel J. Craig, Erin Crawford, Angela del Pozo, Ira W. Deveson, Daniel Duncan, Agda Karina Eterovic, Xiaohui Fan, Jonathan Foox, Cesare Furlanello, Abhisek Ghosal, Sean Glenn, Meijian Guan, Christine Haag, Xinyi Hang, Scott Happe, Brittany Hennigan, Jennifer Hipp, Huixiao Hong, Kyle Horvath, Jianhong Hu, Li-Yuan Hung, Mirna Jarosz, Jennifer Kerkhof, Benjamin Kipp, David Philip Kreil, Paweł Łabaj, Pablo Lapunzina, Peng Li, Quan-Zhen Li, Weihua Li, Zhiguang Li, Yu Liang, Shaoqing Liu, Zhichao Liu, Charles Ma, Narasimha Marella, Rubén Martín-Arenas, Dalila B. Megherbi, Qingchang Meng, Piotr A. Mieczkowski, Tom Morrison, Donna Muzny, Baitang Ning, Barbara L. Parsons, Cloud P. Paweletz, Mehdi Pirooznia, Wubin Qu, Amelia Raymond, Paul Rindler, Rebecca Ringler, Bekim Sadikovic, Andreas Scherer, Egbert Schulze, Robert Sebra, Rita Shaknovich, Qiang Shi, Tieliu Shi, Juan Carlos Silla-Castro, Melissa Smith, Mario Solís López, Ping Song, Daniel Stetson, Maya Strahl, Alan Stuart, Julianna Supplee, Philippe Szankasi, Haowen Tan, Lin-ya Tang, Yonghui Tao, Shraddha Thakkar, Danielle Thierry-Mieg, Jean Thierry-Mieg, Venkat J. Thodima, David Thomas, Boris Tichý, Nikola Tom, Elena Vallespin Garcia, Suman Verma, Kimbley Walker, Charles Wang, Junwen Wang, Yexun Wang, Zhining Wen, Valtteri Wirta, Leihong Wu, Chunlin Xiao, Wenzhong Xiao, Shibei Xu, Mary Yang, Jianming Ying, Shun H. Yip, Guangliang Zhang, Sa Zhang, Meiru Zhao, Yuanting Zheng, Xiaoyan Zhou, Christopher E. Mason, Timothy Mercer, Weida Tong, Leming Shi, Wendell Jones, Joshua Xu

    Diterbitkan 2021-04-01
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