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Minimum information and guidelines for reporting a multiplexed assay of variant effect Claussnitzer, Melina; Parikh, Victoria N.; Wagner, Alex H.; Arbesfeld, Jeremy A.; Bult, Carol J.; Firth, Helen V.; Muffley, Lara A.; Ba, Alex N. Nguyen; Riehle, Kevin; Roth, Frederick P.; Tabet, Daniel; Bolognesi, Benedetta; Glazer, Andrew M.; Rubin, Alan F. 分享 收藏
DGIdb 5.0: rebuilding the drug-gene interaction database for precision medicine and drug discovery platforms Cannon, Matthew; Stevenson, James; Stahl, Kathryn; Basu, Rohit; Coffman, Adam; Kiwala, Susanna; McMichael, Joshua F.; Kuzma, Kori; Morrissey, Dorian; Cotto, Kelsy; Mardis, Elaine R.; Griffith, Obi L.; Griffith, Malachi; Wagner, Alex H. 分享 收藏
ClinGen Somatic and CIViC collaborate to comprehensively evaluate somatic variants in cancer Saliba, Jason; Danos, Arpad; Krysiak, Kilannin; Coffman, Adam; Kiwala, Susanna; McMichael, Joshua; Grisdale, Cameron J.; King, Ian; Selvarajah, Shamini; Xu, Xinjie; Kanagal-Shamanna, Rashmi; Satgunaseelan, Laveniya; Meredith, David; Evans, Mark; Mullighan, Charles G.; Akkari, Yassmine; Raca, Gordana; Roy, Angshumoy; Wagner, Alex H.; Govindan, Ramaswamy; Griffith, Obi L.; Griffith, Malachi 分享 收藏
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase Krysiak, Kilannin; Danos, Arpad M.; Saliba, Jason; McMichael, Joshua F.; Coffman, Adam C.; Kiwala, Susanna; Barnell, Erica K.; Sheta, Lana; Grisdale, Cameron J.; Kujan, Lynzey; Pema, Shahil; Lever, Jake; Ridd, Sarah; Spies, Nicholas C.; Andric, Veronica; Chiorean, Andreea; Rieke, Damian T.; Clark, Kaitlin A.; Reisle, Caralyn; Venigalla, Ajay C.; Evans, Mark; Jani, Payal; Takahashi, Hideaki; Suda, Avila; Horak, Peter; Ritter, Deborah, I; Zhou, Xin; Ainscough, Benjamin J.; Delong, Sean; Kesserwan, Chimene; Lamping, Mario; Shen, Haolin; Marr, Alex R.; Hoang, My H.; Singhal, Kartik; Khanfar, Mariam; Li, Brian, V; Lin, Wan-Hsin; Terraf, Panieh; Corson, Laura B.; Salama, Yasser; Campbell, Katie M.; Farncombe, Kirsten M.; Ji, Jianling; Zhao, Xiaonan; Xu, Xinjie; Kanagal-Shamanna, Rashmi; King, Ian; Cotto, Kelsy C.; Skidmore, Zachary L.; Walker, Jason R.; Zhang, Jinghui; Milosavljevic, Aleksandar; Patel, Ronak Y.; Giles, Rachel H.; Kim, Raymond H.; Schriml, Lynn M.; Mardis, Elaine R.; Jones, Steven J. M.; Raca, Gordana; Rao, Shruti; Madhavan, Subha; Wagner, Alex H.; Griffith, Malachi; Griffith, Obi L. 分享 收藏
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) (vol 24, pg 986, 2022) Horak, Peter; Griffith, Malachi; Danos, Arpad M.; Pitel, Beth A.; Madhavan, Subha; Liu, Xuelu; Chow, Cynthia; Williams, Heather; Carmody, Leigh; Barrow-Laing, Lisa; Rieke, Damian; Kreutzfeldt, Simon; Stenzinger, Albrecht; Tamborero, David; Benary, Manuela; Rajagopal, Padma Sheila; Ida, Cristiane M.; Lesmana, Harry; Satgunaseelan, Laveniya; Merker, Jason D.; Tolstorukov, Michael Y.; Campregher, Paulo Vidal; Warner, Jeremy L.; Rao, Shruti; Natesan, Maya; Shen, Haolin; Venstrom, Jeffrey; Roy, Somak; Tao, Kayoko; Kanagal-Shamanna, Rashmi; Xu, Xinjie; Ritter, Deborah I.; Pagel, Kym; Krysiak, Kilannin; Dubuc, Adrian; Akkari, Yassmine M.; Li, Xuan Shirley; Lee, Jennifer; King, Ian; Raca, Gordana; Wagner, Alex H.; Li, Marylin M.; Plon, Sharon E.; Kulkarni, Shashikant; Griffith, Obi L.; Chakravarty, Debyani; Sonkin, Dmitriy 分享 收藏
Artificial intelligence and pathology: From principles to practice and future applications in histomorphology and molecular profiling 人工智能与病理学: 从原理到实践以及在组织形态学和分子谱分析中的未来应用 Stenzinger, Albrecht; Alber, Maximilian; Allgaeuer, Michael; Jurmeister, Philipp; Bockmayr, Michael; Budczies, Jan; Lennerz, Jochen; Eschrich, Johannes; Kazdal, Daniel; Schirmacher, Peter; Wagner, Alex H.; Tacke, Frank; Capper, David; Mueller, Klaus-Robert; Klauschen, Frederick 分享 收藏
Genomic architecture of FGFR2 fusions in cholangiocarcinoma and its implication for molecular testing Neumann, Olaf; Burn, Timothy C.; Allgaeuer, Michael; Ball, Markus; Kirchner, Martina; Albrecht, Thomas; Volckmar, Anna-Lena; Beck, Susanne; Endris, Volker; Goldschmid, Hannah; Lehmann, Ulrich; Seker-Cin, Huriye; Uhrig, Sebastian; Roessler, Stephanie; Budczies, Jan; Froehling, Stefan; Longerich, Thomas; Wagner, Alex H.; Vogel, Arndt; Schirmacher, Peter; Stenzinger, Albrecht; Kazdal, Daniel 分享 收藏
The GA4GH Phenopacket schema defines a computable representation of clinical data Jacobsen, Julius O. B.; Baudis, Michael; Baynam, Gareth S.; Beckmann, Jacques S.; Beltran, Sergi; Buske, Orion J.; Callahan, Tiffany J.; Chute, Christopher G.; Courtot, Melanie; Danis, Daniel; Elemento, Olivier; Essenwanger, Andrea; Freimuth, Robert R.; Gargano, Michael A.; Groza, Tudor; Hamosh, Ada; Harris, Nomi L.; Kaliyaperumal, Rajaram; Lloyd, Kevin C. Kent; Khalifa, Aly; Krawitz, Peter M.; Koeler, Sebastian; Laraway, Brian J.; Lehvaslaiho, Heikki; Matalonga, Leslie; McMurry, Julie A.; Metke-Jimenez, Alejandro; Mungall, Christopher J.; Munoz-Torres, Monica C.; Ogishima, Soichi; Papakonstantinou, Anastasios; Piscia, Davide; Pontikos, Nikolas; Queralt-Rosinach, Nuria; Roos, Marco; Sass, Julian; Schofield, Paul N.; Seelow, Dominik; Siapos, Anastasios; Smedley, Damian; Smith, Lindsay D.; Steinhaus, Robin; Sundaramurthi, Jagadish Chandrabose; Swietlik, Emilia M.; Thun, Sylvia; Vasilevsky, Nicole A.; Wagner, Alex H.; Warner, Jeremy L.; Weiland, Claus; Haendel, Melissa A.; Robinson, Peter N. 分享 收藏
A community approach to the cancer-variant-interpretation bottleneck Krysiak, Kilannin; Danos, Arpad M.; Kiwala, Susanna; McMichael, Joshua F.; Coffman, Adam C.; Barnell, Erica K.; Sheta, Lana; Saliba, Jason; Grisdale, Cameron J.; Kujan, Lynzey; Pema, Shahil; Lever, Jake; Spies, Nicholas C.; Chiorean, Andreea; Rieke, Damian T.; Clark, Kaitlin A.; Jani, Payal; Takahashi, Hideaki; Horak, Peter; Ritter, Deborah, I; Zhou, Xin; Ainscough, Benjamin J.; Delong, Sean; Lamping, Mario; Marr, Alex R.; Li, Brian, V; Lin, Wan-Hsin; Terraf, Panieh; Salama, Yasser; Campbell, Katie M.; Farncombe, Kirsten M.; Ji, Jianling; Zhao, Xiaonan; Xu, Xinjie; Kanagal-Shamanna, Rashmi; Cotto, Kelsy C.; Skidmore, Zachary L.; Walker, Jason R.; Zhang, Jinghui; Milosavljevic, Aleksandar; Patel, Ronak Y.; Giles, Rachel H.; Kim, Raymond H.; Schriml, Lynn M.; Mardis, Elaine R.; Jones, Steven J. M.; Raca, Gordana; Rao, Shruti; Madhavan, Subha; Wagner, Alex H.; Griffith, Obi L.; Griffith, Malachi 分享 收藏
A Simple Standard for Sharing Ontological Mappings (SSSOM) 共享本体映射 (SSSOM) 的简单标准 Matentzoglu, Nicolas; Balhoff, James P.; Bello, Susan M.; Bizon, Chris; Brush, Matthew; Callahan, Tiffany J.; Chute, Christopher G.; Duncan, William D.; Evelo, Chris T.; Gabriel, Davera; Graybeal, John; Gray, Alasdair; Gyori, Benjamin M.; Haendel, Melissa; Harmse, Henriette; Harris, Nomi L.; Harrow, Ian; Hegde, Harshad B.; Hoyt, Amelia L.; Hoyt, Charles T.; Jiao, Dazhi; Jimenez-Ruiz, Ernesto; Jupp, Simon; Kim, Hyeongsik; Koehler, Sebastian; Liener, Thomas; Long, Qinqin; Malone, James; McLaughlin, James A.; McMurry, Julie A.; Moxon, Sierra; Munoz-Torres, Monica C.; Osumi-Sutherland, David; Overton, James A.; Peters, Bjoern; Putman, Tim; Queralt-Rosinach, Nuria; Shefchek, Kent; Solbrig, Harold; Thessen, Anne; Tudorache, Tania; Vasilevsky, Nicole; Wagner, Alex H.; Mungall, Christopher J. 分享 收藏
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) 癌症体细胞变异的致病性分类标准 (致癌性): 临床基因组资源 (ClinGen)，癌症基因组学联盟 (CGC) 和癌症变异解释联盟 (VICC) 的联合建议 Horak, Peter; Griffith, Malachi; Danos, Arpad M.; Pitel, Beth A.; Madhavan, Subha; Liu, Xuelu; Chow, Cynthia; Williams, Heather; Carmody, Leigh; Barrow-Laing, Lisa; Rieke, Damian; Kreutzfeldt, Simon; Stenzinger, Albrecht; Tamborero, David; Benary, Manuela; Rajagopal, Padma Sheila; Ida, Cristiane M.; Lesmana, Harry; Satgunaseelan, Laveniya; Merker, Jason D.; Tolstorukov, Michael Y.; Campregher, Paulo Vidal; Warner, Jeremy L.; Rao, Shruti; Natesan, Maya; Shen, Haolin; Venstrom, Jeffrey; Roy, Somak; Tao, Kayoko; Kanagal-Shamanna, Rashmi; Xu, Xinjie; Ritter, Deborah, I; Pagel, Kym; Krysiak, Kilannin; Dubuc, Adrian; Akkari, Yassmine M.; Li, Xuan Shirley; Lee, Jennifer; King, Ian; Raca, Gordana; Wagner, Alex H.; Li, Marylin M.; Plon, Sharon E.; Kulkarni, Shashikant; Griffith, Obi L.; Chakravarty, Debyani; Sonkin, Dmitriy 分享 收藏
Genetic variants associated with childhood cancers: Curation initiatives of the ClinGen Somatic Cancer Pediatric Taskforce Williams, Heather; Krysiak, Kilannin; Lin, Wan-Hsin; Roy, Angshumoy; Church, Alanna; Saliba, Jason; Rao, Shruti; Ritter, Deborah; Danos, Arpad; Corson, Laura; Fisher, Kevin; Hiemenz, Matthew; Janeway, Katherine A.; Ji, Jianling; Kesserwan, Chimene; Laetsch, Ted; Parsons, Donald; Schmidt, Ryan; Sund, Kristen; Terraf, Panieh; Xu, Xinjie; Kanagal-Shamana, Rashmi; Dyer, Lisa; Harris, Marian; Lee, Kristy; Wagner, Alex; Akkari, Yassmine; Satgunaseelan, Laveniya; Griffith, Malachi; Griffith, Obi; Kulkarni, Shashikant; Schriml, Lynn; Jean, Jeffrey; Madhavan, Subha; Raca, Gordana 分享 收藏
The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group Saliba, Jason; Raca, Gordana; Roy, Angshumoy; King, Ian; Selvarajah, Shamini; Xu, Xinjie; Kanagal-Shamana, Rashmi; Satgunaseelan, Laveniya; Meredith, David; Evans, Mark; Church, Alanna; Terraf, Panieh; Akkari, Yassmine; Williams, Heather; Lin, Wan-Hsin; Kesserwan, Chimene; Ritter, Deborah; Krysiak, Kilannin; Danos, Arpad; Wagner, Alex; Li, Marilyn; Sonkin, Dmitriy; Berg, Jonathan; Plon, Sharon; Rehm, Heidi; Kulkarni, Shashikant; Govindan, Ramaswamy; Griffith, Obi; Griffith, Malachi 分享 收藏
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Discovery of clinically relevant fusions in pediatric cancer 儿科癌症临床相关融合的发现 LaHaye, Stephanie; Fitch, James R.; Voytovich, Kyle J.; Herman, Adam C.; Kelly, Benjamin J.; Lammi, Grant E.; Arbesfeld, Jeremy A.; Wijeratne, Saranga; Franklin, Samuel J.; Schieffer, Kathleen M.; Bir, Natalie; McGrath, Sean D.; Miller, Anthony R.; Wetzel, Amy; Miller, Katherine E.; Bedrosian, Tracy A.; Leraas, Kristen; Varga, Elizabeth A.; Lee, Kristy; Gupta, Ajay; Setty, Bhuvana; Boue, Daniel R.; Leonard, Jeffrey R.; Finlay, Jonathan L.; Abdelbaki, Mohamed S.; Osorio, Diana S.; Koo, Selene C.; Koboldt, Daniel C.; Wagner, Alex H.; Eisfeld, Ann-Kathrin; Mrozek, Krzysztof; Magrini, Vincent; Cottrell, Catherine E.; Mardis, Elaine R.; Wilson, Richard K.; White, Peter 分享 收藏
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The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification GA4GH变异表示规范: 变异表示和联合识别的计算框架 Wagner, Alex H.; Babb, Lawrence; Alterovitz, Gil; Baudis, Michael; Brush, Matthew; Cameron, Daniel L.; Cline, Melissa; Griffith, Malachi; Griffith, Obi L.; Hunt, Sarah E.; Kreda, David; Lee, Jennifer M.; Li, Stephanie; Lopez, Javier; Moyer, Eric; Nelson, Tristan; Patel, Ronak Y.; Riehle, Kevin; Robinson, Peter N.; Rynearson, Shawn; Schuilenburg, Helen; Tsukanov, Kirill; Walsh, Brian; Konopko, Melissa; Rehm, Heidi L.; Yates, Andrew D.; Freimuth, Robert R.; Hart, Reece K. 分享 收藏
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