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The Coronavirus Standards Working Group's roadmap for improved population testing 冠状病毒标准工作组改进人口检测的路线图 Mercer, Tim; Almond, Neil; Crone, Michael A.; Chain, Patrick S. G.; Deshpande, Alina; Eveleigh, Deepa; Freemont, Paul; Fuchs, Sebastien; Garlick, Russell; Huggett, Jim; Kammel, Martin; Li, Po-E; Milavec, Mojca; Marlowe, Elizabeth M.; O'Sullivan, Denise M.; Page, Mark; Pestano, Gary A.; Suliman, Sara; Simen, Birgitte; Sninsky, John J.; Sopchak, Lynne; Tato, Cristina M.; Vallone, Peter M.; Vandesompele, Jo; White, Thomas J.; Zeichhardt, Heinz; Salit, Marc 分享 收藏
Benchmarking challenging small variants with linked and long reads 具有链接和长读取的具有挑战性的小变体的基准测试 Wagner, Justin; Olson, Nathan D.; Harris, Lindsay; Khan, Ziad; Farek, Jesse; Mahmoud, Medhat; Stankovic, Ana; Kovacevic, Vladimir; Yoo, Byunggil; Miller, Neil; Rosenfeld, Jeffrey A.; Ni, Bohan; Zarate, Samantha; Kirsche, Melanie; Aganezov, Sergey; Schatz, Michael C.; Narzisi, Giuseppe; Byrska-Bishop, Marta; Clarke, Wayne; Evani, Uday S.; Markello, Charles; Shafin, Kishwar; Zhou, Xin; Sidow, Arend; Bansal, Vikas; Ebert, Peter; Marschall, Tobias; Lansdorp, Peter; Hanlon, Vincent; Mattsson, Carl-Adam; Barrio, Alvaro Martinez; Fiddes, Ian T.; Xiao, Chunlin; Fungtammasan, Arkarachai; Chin, Chen-Shan; Wenger, Aaron M.; Rowell, William J.; Sedlazeck, Fritz J.; Carroll, Andrew; Salit, Marc; Zook, Justin M. 分享 收藏
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One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation Lincoln, Stephen E.; Hambuch, Tina; Zook, Justin M.; Bristow, Sara L.; Hatchell, Kathryn; Truty, Rebecca; Kennemer, Michael; Shirts, Brian H.; Fellowes, Andrew; Chowdhury, Shimul; Klee, Eric W.; Mahamdallie, Shazia; Cleveland, Megan H.; Vallone, Peter M.; Ding, Yan; Seal, Sheila; DeSilva, Wasanthi; Tomson, Farol L.; Huang, Catherine; Garlick, Russell K.; Rahman, Nazneen; Salit, Marc; Kingsmore, Stephen F.; Ferber, Matthew J.; Aradhya, Swaroop; Nussbaum, Robert L. 分享 收藏
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Cautionary Note on Contamination of Reagents Used for Molecular Detection of SARS-CoV-2 Huggett, Jim F.; Benes, Vladimir; Bustin, Stephen A.; Garson, Jeremy A.; Harris, Karthyn; Kammel, Martin; Kubista, Mikael; McHugh, Timothy D.; Moran-Gilad, Jacob; Nolan, Tania; Pfaffl, Michael W.; Salit, Marc; Shipley, Greg; Vallone, Peter M.; Vandesompele, Jo; Wittwer, Carl; Zeichhardt, Heinz 分享 收藏
A diploid assembly-based benchmark for variants in the major histocompatibility complex 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. 分享 收藏
The COVID-19 XPRIZE and the need for scalable, fast, and widespread testing MacKay, Matthew J.; Hooker, Anna C.; Afshinnekoo, Ebrahim; Salit, Marc; Kelly, Jason; Feldstein, Jonathan V.; Haft, Nick; Schenkel, Doug; Nambi, Subhalaxmi; Cai, Yizhi; Zhang, Feng; Church, George; Dai, Junbiao; Wang, Cliff L.; Levy, Shawn; Huber, Jeff; Ji, Hanlee P.; Kriegel, Alison; Wyllie, Anne L.; Mason, Christopher E. 分享 收藏
A robust benchmark for detection of germline large deletions and insertions (Jun, 10.1038/s41587-020-0538-8, 2020) 用于检测种系大缺失和插入的稳健基准 (6月，10.1038/s41587-020-0538-8，2020) 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 分享 收藏
A robust benchmark for detection of germline large deletions and insertions 用于检测种系大缺失和插入的可靠基准 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 分享 收藏
Assembly and annotation of an Ashkenazi human reference genome Ashkenazi人类参考基因组的组装和注释 Shumate, Alaina; Zimin, Aleksey, V; Sherman, Rachel M.; Puiu, Daniela; Wagner, Justin M.; Olson, Nathan D.; Pertea, Mihaela; Salit, Marc L.; Zook, Justin M.; Salzberg, Steven L. 分享 收藏
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An open resource for accurately benchmarking small variant and reference calls 一个开放的资源，用于准确地对小的变体和参考调用进行基准测试 Zook, Justin M.; McDaniel, Jennifer; Olson, Nathan D.; Wagner, Justin; Parikh, Hemang; Heaton, Haynes; Irvine, Sean A.; Trigg, Len; Truty, Rebecca; McLean, Cory, V; De La Vega, Francisco M.; Xiao, Chunlin; Sherry, Stephen; Salit, Marc 分享 收藏
Best practices for benchmarking germline small-variant calls in human genomes (vol 37, pg 555, 2019) Krusche, Peter; Trigg, Len; Boutros, Paul C.; Mason, Christopher E.; De La Vega, Francisco M.; Moore, Benjamin L.; Gonzalez-Porta, Mar; Eberle, Michael A.; Tezak, Zivana; Lababidi, Samir; Truty, Rebecca; Asimenos, George; Funke, Birgit; Fleharty, Mark; Chapman, Brad A.; Salit, Marc; Zook, Justin M. 分享 收藏
Best practices for benchmarking germline small-variant calls in human genomes 对人类基因组中的种系小变异调用进行基准测试的最佳实践 Krusche, Peter; Trigg, Len; Boutros, Paul C.; Mason, Christopher E.; De La Vega, Francisco M.; Moore, Benjamin L.; Gonzalez-Porta, Mar; Eberle, Michael A.; Tezak, Zivana; Lababidi, Samir; Truty, Rebecca; Asimenos, George; Funke, Birgit; Fleharty, Mark; Chapman, Brad A.; Salit, Marc; Zook, Justin M. 分享 收藏
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