An open resource for accurately benchmarking small variant and reference calls von Zook, Justin M., McDaniel, Jennifer, Olson, Nathan D., Wagner, Justin, Parikh, Hemang, Heaton, Haynes, Irvine, Sean A., Trigg, Len, Truty, Rebecca, McLean, Cory Y., De La Vega, Francisco M., Xiao, Chunlin, Sherry, Stephen, Salit, Marc

Volltext

A robust benchmark for detection of germline large deletions and insertions von Zook, Justin M., Hansen, Nancy F., Olson, Nathan D., Chapman, Lesley, Mullikin, James C., Xiao, Chunlin, Sherry, Stephen, Koren, Sergey, Phillippy, Adam M., Boutros, Paul C., Sahraeian, Sayed Mohammad E., Huang, Vincent, Rouette, Alexandre, Alexander, Noah, Mason, Christopher E., Hajirasouliha, Iman, Ricketts, Camir, Lee, Joyce, Tearle, Rick, Fiddes, Ian T., Barrio, Alvaro Martinez, Wala, Jeremiah, Carroll, Andrew, Ghaffari, Noushin, Rodriguez, Oscar L., Bashir, Ali, Jackman, Shaun, Farrell, John J., Wenger, Aaron M., Alkan, Can, Soylev, Arda, Schatz, Michael C., Garg, Shilpa, Church, George, Marschall, Tobias, Chen, Ken, Fan, Xian, English, Adam C., Rosenfeld, Jeffrey A., Zhou, Weichen, Mills, Ryan E., Sage, Jay M., Davis, Jennifer R., Kaiser, Michael D., Oliver, John S., Catalano, Anthony P., Chaisson, Mark J. P., Spies, Noah, Sedlazeck, Fritz J., Salit, Marc

Volltext

Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing von Xiao, Wenming, Ren, Luyao, Chen, Zhong, Fang, Li Tai, Zhao, Yongmei, Lack, Justin, Guan, Meijian, Zhu, Bin, Jaeger, Erich, Kerrigan, Liz, Blomquist, Thomas M., Hung, Tiffany, Sultan, Marc, Idler, Kenneth, Lu, Charles, Scherer, Andreas, Kusko, Rebecca, Moos, Malcolm, Xiao, Chunlin, Sherry, Stephen T., Abaan, Ogan D., Chen, Wanqiu, Chen, Xin, Nordlund, Jessica, Liljedahl, Ulrika, Maestro, Roberta, Polano, Maurizio, Drabek, Jiri, Vojta, Petr, Kõks, Sulev, Reimann, Ene, Madala, Bindu Swapna, Mercer, Timothy, Miller, Chris, Jacob, Howard, Truong, Tiffany, Moshrefi, Ali, Natarajan, Aparna, Granat, Ana, Schroth, Gary P., Kalamegham, Rasika, Peters, Eric, Petitjean, Virginie, Walton, Ashley, Shen, Tsai-Wei, Talsania, Keyur, Vera, Cristobal Juan, Langenbach, Kurt, de Mars, Maryellen, Hipp, Jennifer A., Willey, James C., Wang, Jing, Shetty, Jyoti, Kriga, Yuliya, Raziuddin, Arati, Tran, Bao, Zheng, Yuanting, Yu, Ying, Cam, Margaret, Jailwala, Parthav, Nguyen, Cu, Meerzaman, Daoud, Chen, Qingrong, Yan, Chunhua, Ernest, Ben, Mehra, Urvashi, Jensen, Roderick V., Jones, Wendell, Li, Jian-Liang, Papas, Brian N., Pirooznia, Mehdi, Chen, Yun-Ching, Seifuddin, Fayaz, Li, Zhipan, Liu, Xuelu, Resch, Wolfgang, Wang, Jingya, Wu, Leihong, Yavas, Gokhan, Miles, Corey, Ning, Baitang, Tong, Weida, Mason, Christopher E., Donaldson, Eric, Lababidi, Samir, Staudt, Louis M., Tezak, Zivana, Hong, Huixiao, Wang, Charles, Shi, Leming

Volltext

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

Volltext

Similarities and differences between variants called with human reference genome HG19 or HG38 von Pan, Bohu, Kusko, Rebecca, Xiao, Wenming, Zheng, Yuanting, Liu, Zhichao, Xiao, Chunlin, Sakkiah, Sugunadevi, Guo, Wenjing, Gong, Ping, Zhang, Chaoyang, Ge, Weigong, Shi, Leming, Tong, Weida, Hong, Huixiao

Volltext

Extensive sequencing of seven human genomes to characterize benchmark reference materials von Zook, Justin M., Catoe, David, McDaniel, Jennifer, Vang, Lindsay, Spies, Noah, Sidow, Arend, Weng, Ziming, Liu, Yuling, Mason, Christopher E., Alexander, Noah, Henaff, Elizabeth, McIntyre, Alexa B.R., Chandramohan, Dhruva, Chen, Feng, Jaeger, Erich, Moshrefi, Ali, Pham, Khoa, Stedman, William, Liang, Tiffany, Saghbini, Michael, Dzakula, Zeljko, Hastie, Alex, Cao, Han, Deikus, Gintaras, Schadt, Eric, Sebra, Robert, Bashir, Ali, Truty, Rebecca M., Chang, Christopher C., Gulbahce, Natali, Zhao, Keyan, Ghosh, Srinka, Hyland, Fiona, Fu, Yutao, Chaisson, Mark, Xiao, Chunlin, Trow, Jonathan, Sherry, Stephen T., Zaranek, Alexander W., Ball, Madeleine, Bobe, Jason, Estep, Preston, Church, George M., Marks, Patrick, Kyriazopoulou-Panagiotopoulou, Sofia, Zheng, Grace X.Y., Schnall-Levin, Michael, Ordonez, Heather S., Mudivarti, Patrice A., Giorda, Kristina, Sheng, Ying, Rypdal, Karoline Bjarnesdatter, Salit, Marc

Volltext

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample von Sahraeian, Sayed Mohammad Ebrahim, Fang, Li Tai, Karagiannis, Konstantinos, Moos, Malcolm, Smith, Sean, Santana-Quintero, Luis, Xiao, Chunlin, Colgan, Michael, Hong, Huixiao, Mohiyuddin, Marghoob, Xiao, Wenming

Volltext

Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples von Xiao, Chunlin, Chen, Zhong, Chen, Wanqiu, Padilla, Cory, Colgan, Michael, Wu, Wenjun, Fang, Li-Tai, Liu, Tiantian, Yang, Yibin, Schneider, Valerie, Wang, Charles, Xiao, Wenming

Volltext

Assessing reproducibility of inherited variants detected with short-read whole genome sequencing von Pan, Bohu, Ren, Luyao, Onuchic, Vitor, Guan, Meijian, Kusko, Rebecca, Bruinsma, Steve, Trigg, Len, Scherer, Andreas, Ning, Baitang, Zhang, Chaoyang, Glidewell-Kenney, Christine, Xiao, Chunlin, Donaldson, Eric, Sedlazeck, Fritz J, Schroth, Gary, Yavas, Gokhan, Grunenwald, Haiying, Chen, Haodong, Meinholz, Heather, Meehan, Joe, Wang, Jing, Yang, Jingcheng, Foox, Jonathan, Shang, Jun, Miclaus, Kelci, Dong, Lianhua, Shi, Leming, Mohiyuddin, Marghoob, Pirooznia, Mehdi, Gong, Ping, Golshani, Rooz, Wolfinger, Russ, Lababidi, Samir, Sahraeian, Sayed Mohammad Ebrahim, Sherry, Steve, Han, Tao, Chen, Tao, Shi, Tieliu, Hou, Wanwan, Ge, Weigong, Zou, Wen, Guo, Wenjing, Bao, Wenjun, Xiao, Wenzhong, Fan, Xiaohui, Gondo, Yoichi, Yu, Ying, Zhao, Yongmei, Su, Zhenqiang, Liu, Zhichao, Tong, Weida, Xiao, Wenming, Zook, Justin M, Zheng, Yuanting, Hong, Huixiao

Volltext

A diploid assembly-based benchmark for variants in the major histocompatibility complex von Chin, Chen-Shan, Wagner, Justin, Zeng, Qiandong, Garrison, Erik, Garg, Shilpa, Fungtammasan, Arkarachai, Rautiainen, Mikko, Aganezov, Sergey, Kirsche, Melanie, Zarate, Samantha, Schatz, Michael C., Xiao, Chunlin, Rowell, William J., Markello, Charles, Farek, Jesse, Sedlazeck, Fritz J., Bansal, Vikas, Yoo, Byunggil, Miller, Neil, Zhou, Xin, Carroll, Andrew, Barrio, Alvaro Martinez, Salit, Marc, Marschall, Tobias, Dilthey, Alexander T., Zook, Justin M.

Volltext

Structural variant analysis of a cancer reference cell line sample using multiple sequencing technologies von Talsania, Keyur, Shen, Tsai-Wei, Chen, Xiongfong, Jaeger, Erich, Li, Zhipan, Chen, Zhong, Chen, Wanqiu, Tran, Bao, Kusko, Rebecca, Wang, Limin, Pang, Andy Wing Chun, Yang, Zhaowei, Choudhari, Sulbha, Colgan, Michael, Fang, Li Tai, Carroll, Andrew, Shetty, Jyoti, Kriga, Yuliya, German, Oksana, Smirnova, Tatyana, Liu, Tiantain, Li, Jing, Kellman, Ben, Hong, Karl, Hastie, Alex R, Natarajan, Aparna, Moshrefi, Ali, Granat, Anastasiya, Truong, Tiffany, Bombardi, Robin, Mankinen, Veronnica, Meerzaman, Daoud, Mason, Christopher E, Collins, Jack, Stahlberg, Eric, Xiao, Chunlin, Wang, Charles, Xiao, Wenming, Zhao, Yongmei

Volltext

Evaluation of somatic copy number variation detection by NGS technologies and bioinformatics tools on a hyper-diploid cancer genome von Masood, Daniall, Ren, Luyao, Nguyen, Cu, Brundu, Francesco G, Zheng, Lily, Zhao, Yongmei, Jaeger, Erich, Li, Yong, Cha, Seong Won, Halpern, Aaron, Truong, Sean, Virata, Michael, Yan, Chunhua, Chen, Qingrong, Pang, Andy, Alberto, Reyes, Xiao, Chunlin, Yang, Zhaowei, Chen, Wanqiu, Wang, Charles, Cross, Jr, Frank, Catreux, Severine, Shi, Leming, Beaver, Julia A, Xiao, Wenming, Meerzaman, Daoud M

Volltext

Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study von Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Kõks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, Xiao, Wenming

Volltext

Abstract 1658: Performance evaluation of assembly based structural variation discovery in paired tumor normal samples von Xiao, Chunlin

Volltext

Distinct molecular mechanisms underlying clinically relevant subtypes of breast cancer: gene expression analyses across three different platforms von Sørlie, Therese, Wang, Yulei, Xiao, Chunlin, Johnsen, Hilde, Naume, Bjørn, Samaha, Raymond R, Børresen-Dale, Anne-Lise

Volltext

Abstract 3278: Performance assessment of de novo assembly-based structural variation detection in the human genome von Xiao, Chunlin

Volltext

Correction to: Similarities and differences between variants called with human reference genome HG19 or HG38 von Pan, Bohu, Kusko, Rebecca, Xiao, Wenming, Zheng, Yuanting, Liu, Zhichao, Xiao, Chunlin, Sakkiah, Sugunadevi, Guo, Wenjing, Gong, Ping, Zhang, Chaoyang, Ge, Weigong, Shi, Leming, Tong, Weida, Hong, Huixiao

Volltext

Effect of dexmedetomidine administration on analgesic, respiration and inflammatory responses in patients undergoing percutaneous endoscopic lumbar discectomy: a prospective observ... von Zhang, Xiaoli, Zhao, Wenping, Sun, Cong, Huang, Zhihua, Zhan, Lifang, Xiao, Chunlin, Lai, Luying, Shan, Reai

Volltext

Recommendations for Uniform Variant Calling of SARS-CoV-2 Genome Sequence across Bioinformatic Workflows von Connor, Ryan, Shakya, Migun, Yarmosh, David A, Maier, Wolfgang, Martin, Ross, Bradford, Rebecca, Brister, J Rodney, Chain, Patrick S G, Copeland, Courtney A, di Iulio, Julia, Hu, Bin, Ebert, Philip, Gunti, Jonathan, Jin, Yumi, Katz, Kenneth S, Kochergin, Andrey, LaRosa, Tré, Li, Jiani, Li, Po-E, Lo, Chien-Chi, Rashid, Sujatha, Maiorova, Evguenia S, Xiao, Chunlin, Zalunin, Vadim, Purcell, Lisa, Pruitt, Kim D

Volltext

Efficacy of acupuncture on pelvic pain in patients with endometriosis: study protocol for a randomized, single-blind, multi-center, placebo-controlled trial von Liang, Ruining, Li, Peishuang, Peng, Xuemei, Xu, Ling, Fan, Pei, Peng, Jiahua, Zhou, Xu, Xiao, Chunlin, Jiang, Miao

Volltext