The SPRED1 Variants Repository for Legius Syndrome

por Sumner, Kelli, Crockett, David K., Muram, Talia, Mallempati, Kalyan, Best, Hunter, Mao, Rong
Publicado 2011

Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

por O’Fallon, Brendan, Durtschi, Jacob, Kellogg, Ana, Lewis, Tracey, Close, Devin, Best, Hunter
Publicado 2022

Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

por Reiley, Joseph, Botas, Pablo, Miller, Christine E., Zhao, Jian, Malone Jenkins, Sabrina, Best, Hunter, Grubb, Peter H., Mao, Rong, Isla, Julián, Brunelli, Luca
Publicado 2023

Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology

por Deveson, Ira W., Gong, Binsheng, Lai, Kevin, LoCoco, Jennifer S., Richmond, Todd A., Schageman, Jeoffrey, Zhang, Zhihong, Novoradovskaya, Natalia, Willey, James C., Jones, Wendell, Kusko, Rebecca, Chen, Guangchun, Madala, Bindu Swapna, Blackburn, James, Stevanovski, Igor, Bhandari, Ambica, Close, Devin, Conroy, Jeffrey, Hubank, Michael, Marella, Narasimha, Mieczkowski, Piotr A., Qiu, Fujun, Sebra, Robert, Stetson, Daniel, Sun, Lihyun, Szankasi, Philippe, Tan, Haowen, Tang, Lin-ya, Arib, Hanane, Best, Hunter, Burgher, Blake, Bushel, Pierre R., Casey, Fergal, Cawley, Simon, Chang, Chia-Jung, Choi, Jonathan, Dinis, Jorge, Duncan, Daniel, Eterovic, Agda Karina, Feng, Liang, Ghosal, Abhisek, Giorda, Kristina, Glenn, Sean, Happe, Scott, Haseley, Nathan, Horvath, Kyle, Hung, Li-Yuan, Jarosz, Mirna, Kushwaha, Garima, Li, Dan, Li, Quan-Zhen, Li, Zhiguang, Liu, Liang-Chun, Liu, Zhichao, Ma, Charles, Mason, Christopher E., Megherbi, Dalila B., Morrison, Tom, Pabón-Peña, Carlos, Pirooznia, Mehdi, Proszek, Paula Z., Raymond, Amelia, Rindler, Paul, Ringler, Rebecca, Scherer, Andreas, Shaknovich, Rita, Shi, Tieliu, Smith, Melissa, Song, Ping, Strahl, Maya, Thodima, Venkat J., Tom, Nikola, Verma, Suman, Wang, Jiashi, Wu, Leihong, Xiao, Wenzhong, Xu, Chang, Yang, Mary, Zhang, Guangliang, Zhang, Sa, Zhang, Yilin, Shi, Leming, Tong, Weida, Johann, Donald J, Mercer, Timothy R., Xu, Joshua
Publicado 2021

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

por Gong, Binsheng, Li, Dan, Kusko, Rebecca, Novoradovskaya, Natalia, Zhang, Yifan, Wang, Shangzi, Pabón-Peña, Carlos, Zhang, Zhihong, Lai, Kevin, Cai, Wanshi, LoCoco, Jennifer S., Lader, Eric, Richmond, Todd A., Mittal, Vinay K., Liu, Liang-Chun, Johann, Donald J., Willey, James C., Bushel, Pierre R., Yu, Ying, Xu, Chang, Chen, Guangchun, Burgess, Daniel, Cawley, Simon, Giorda, Kristina, Haseley, Nathan, Qiu, Fujun, Wilkins, Katherine, Arib, Hanane, Attwooll, Claire, Babson, Kevin, Bao, Longlong, Bao, Wenjun, Lucas, Anne Bergstrom, Best, Hunter, Bhandari, Ambica, Bisgin, Halil, Blackburn, James, Blomquist, Thomas M., Boardman, Lisa, Burgher, Blake, Butler, Daniel J., Chang, Chia-Jung, Chaubey, Alka, Chen, Tao, Chierici, Marco, Chin, Christopher R., Close, Devin, Conroy, Jeffrey, Coleman, Jessica Cooley, Craig, Daniel J., Crawford, Erin, del Pozo, Angela, Deveson, Ira W., Duncan, Daniel, Eterovic, Agda Karina, Fan, Xiaohui, Foox, Jonathan, Furlanello, Cesare, Ghosal, Abhisek, Glenn, Sean, Guan, Meijian, Haag, Christine, Hang, Xinyi, Happe, Scott, Hennigan, Brittany, Hipp, Jennifer, Hong, Huixiao, Horvath, Kyle, Hu, Jianhong, Hung, Li-Yuan, Jarosz, Mirna, Kerkhof, Jennifer, Kipp, Benjamin, Kreil, David Philip, Łabaj, Paweł, Lapunzina, Pablo, Li, Peng, Li, Quan-Zhen, Li, Weihua, Li, Zhiguang, Liang, Yu, Liu, Shaoqing, Liu, Zhichao, Ma, Charles, Marella, Narasimha, Martín-Arenas, Rubén, Megherbi, Dalila B., Meng, Qingchang, Mieczkowski, Piotr A., Morrison, Tom, Muzny, Donna, Ning, Baitang, Parsons, Barbara L., Paweletz, Cloud P., Pirooznia, Mehdi, Qu, Wubin, Raymond, Amelia, Rindler, Paul, Ringler, Rebecca, Sadikovic, Bekim, Scherer, Andreas, Schulze, Egbert, Sebra, Robert, Shaknovich, Rita, Shi, Qiang, Shi, Tieliu, Silla-Castro, Juan Carlos, Smith, Melissa, López, Mario Solís, Song, Ping, Stetson, Daniel, Strahl, Maya, Stuart, Alan, Supplee, Julianna, Szankasi, Philippe, Tan, Haowen, Tang, Lin-ya, Tao, Yonghui, Thakkar, Shraddha, Thierry-Mieg, Danielle, Thierry-Mieg, Jean, Thodima, Venkat J., Thomas, David, Tichý, Boris, Tom, Nikola, Garcia, Elena Vallespin, Verma, Suman, Walker, Kimbley, Wang, Charles, Wang, Junwen, Wang, Yexun, Wen, Zhining, Wirta, Valtteri, Wu, Leihong, Xiao, Chunlin, Xiao, Wenzhong, Xu, Shibei, Yang, Mary, Ying, Jianming, Yip, Shun H., Zhang, Guangliang, Zhang, Sa, Zhao, Meiru, Zheng, Yuanting, Zhou, Xiaoyan, Mason, Christopher E., Mercer, Timothy, Tong, Weida, Shi, Leming, Jones, Wendell, Xu, Joshua
Publicado 2021