日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

GA4GH: International policies and standards for data sharing across genomic research and healthcare

GA4GH:基因组研究和医疗保健领域数据共享的国际政策和标准

Rehm, Heidi L; Page, Angela J H; Smith, Lindsay; Adams, Jeremy B; Alterovitz, Gil; Babb, Lawrence J; Barkley, Maxmillian P; Baudis, Michael; Beauvais, Michael J S; Beck, Tim; Beckmann, Jacques S; Beltran, Sergi; Bernick, David; Bernier, Alexander; Bonfield, James K; Boughtwood, Tiffany F; Bourque, Guillaume; Bowers, Sarion R; Brookes, Anthony J; Brudno, Michael; Brush, Matthew H; Bujold, David; Burdett, Tony; Buske, Orion J; Cabili, Moran N; Cameron, Daniel L; Carroll, Robert J; Casas-Silva, Esmeralda; Chakravarty, Debyani; Chaudhari, Bimal P; Chen, Shu Hui; Cherry, J Michael; Chung, Justina; Cline, Melissa; Clissold, Hayley L; Cook-Deegan, Robert M; Courtot, Mélanie; Cunningham, Fiona; Cupak, Miro; Davies, Robert M; Denisko, Danielle; Doerr, Megan J; Dolman, Lena I; Dove, Edward S; Dursi, L Jonathan; Dyke, Stephanie O M; Eddy, James A; Eilbeck, Karen; Ellrott, Kyle P; Fairley, Susan; Fakhro, Khalid A; Firth, Helen V; Fitzsimons, Michael S; Fiume, Marc; Flicek, Paul; Fore, Ian M; Freeberg, Mallory A; Freimuth, Robert R; Fromont, Lauren A; Fuerth, Jonathan; Gaff, Clara L; Gan, Weiniu; Ghanaim, Elena M; Glazer, David; Green, Robert C; Griffith, Malachi; Griffith, Obi L; Grossman, Robert L; Groza, Tudor; Guidry Auvil, Jaime M; Guigó, Roderic; Gupta, Dipayan; Haendel, Melissa A; Hamosh, Ada; Hansen, David P; Hart, Reece K; Hartley, Dean Mitchell; Haussler, David; Hendricks-Sturrup, Rachele M; Ho, Calvin W L; Hobb, Ashley E; Hoffman, Michael M; Hofmann, Oliver M; Holub, Petr; Hsu, Jacob Shujui; Hubaux, Jean-Pierre; Hunt, Sarah E; Husami, Ammar; Jacobsen, Julius O; Jamuar, Saumya S; Janes, Elizabeth L; Jeanson, Francis; Jené, Aina; Johns, Amber L; Joly, Yann; Jones, Steven J M; Kanitz, Alexander; Kato, Kazuto; Keane, Thomas M; Kekesi-Lafrance, Kristina; Kelleher, Jerome; Kerry, Giselle; Khor, Seik-Soon; Knoppers, Bartha M; Konopko, Melissa A; Kosaki, Kenjiro; Kuba, Martin; Lawson, Jonathan; Leinonen, Rasko; Li, Stephanie; Lin, Michael F; Linden, Mikael; Liu, Xianglin; Udara Liyanage, Isuru; Lopez, Javier; Lucassen, Anneke M; Lukowski, Michael; Mann, Alice L; Marshall, John; Mattioni, Michele; Metke-Jimenez, Alejandro; Middleton, Anna; Milne, Richard J; Molnár-Gábor, Fruzsina; Mulder, Nicola; Munoz-Torres, Monica C; Nag, Rishi; Nakagawa, Hidewaki; Nasir, Jamal; Navarro, Arcadi; Nelson, Tristan H; Niewielska, Ania; Nisselle, Amy; Niu, Jeffrey; Nyrönen, Tommi H; O'Connor, Brian D; Oesterle, Sabine; Ogishima, Soichi; Wang, Vivian Ota; Paglione, Laura A D; Palumbo, Emilio; Parkinson, Helen E; Philippakis, Anthony A; Pizarro, Angel D; Prlic, Andreas; Rambla, Jordi; Rendon, Augusto; Rider, Renee A; Robinson, Peter N; Rodarmer, Kurt W; Rodriguez, Laura Lyman; Rubin, Alan F; Rueda, Manuel; Rushton, Gregory A; Ryan, Rosalyn S; Saunders, Gary I; Schuilenburg, Helen; Schwede, Torsten; Scollen, Serena; Senf, Alexander; Sheffield, Nathan C; Skantharajah, Neerjah; Smith, Albert V; Sofia, Heidi J; Spalding, Dylan; Spurdle, Amanda B; Stark, Zornitza; Stein, Lincoln D; Suematsu, Makoto; Tan, Patrick; Tedds, Jonathan A; Thomson, Alastair A; Thorogood, Adrian; Tickle, Timothy L; Tokunaga, Katsushi; Törnroos, Juha; Torrents, David; Upchurch, Sean; Valencia, Alfonso; Guimera, Roman Valls; Vamathevan, Jessica; Varma, Susheel; Vears, Danya F; Viner, Coby; Voisin, Craig; Wagner, Alex H; Wallace, Susan E; Walsh, Brian P; Williams, Marc S; Winkler, Eva C; Wold, Barbara J; Wood, Grant M; Woolley, J Patrick; Yamasaki, Chisato; Yates, Andrew D; Yung, Christina K; Zass, Lyndon J; Zaytseva, Ksenia; Zhang, Junjun; Goodhand, Peter; North, Kathryn; Birney, Ewan

Empirical validation of an automated approach to data use oversight

对数据使用监督自动化方法的实证验证

Cabili, Moran N; Lawson, Jonathan; Saltzman, Andrea; Rushton, Greg; O'Rourke, Pearl; Wilbanks, John; Rodriguez, Laura Lyman; Nyronen, Tommi; Courtot, Mélanie; Donnelly, Stacey; Philippakis, Anthony A

The Data Use Ontology to streamline responsible access to human biomedical datasets

数据使用本体旨在简化对人类生物医学数据集的负责任访问

Lawson, Jonathan; Cabili, Moran N; Kerry, Giselle; Boughtwood, Tiffany; Thorogood, Adrian; Alper, Pinar; Bowers, Sarion R; Boyles, Rebecca R; Brookes, Anthony J; Brush, Matthew; Burdett, Tony; Clissold, Hayley; Donnelly, Stacey; Dyke, Stephanie O M; Freeberg, Mallory A; Haendel, Melissa A; Hata, Chihiro; Holub, Petr; Jeanson, Francis; Jene, Aina; Kawashima, Minae; Kawashima, Shuichi; Konopko, Melissa; Kyomugisha, Irene; Li, Haoyuan; Linden, Mikael; Rodriguez, Laura Lyman; Morita, Mizuki; Mulder, Nicola; Muller, Jean; Nagaie, Satoshi; Nasir, Jamal; Ogishima, Soichi; Ota Wang, Vivian; Paglione, Laura D; Pandya, Ravi N; Parkinson, Helen; Philippakis, Anthony A; Prasser, Fabian; Rambla, Jordi; Reinold, Kathy; Rushton, Gregory A; Saltzman, Andrea; Saunders, Gary; Sofia, Heidi J; Spalding, John D; Swertz, Morris A; Tulchinsky, Ilia; van Enckevort, Esther J; Varma, Susheel; Voisin, Craig; Yamamoto, Natsuko; Yamasaki, Chisato; Zass, Lyndon; Guidry Auvil, Jaime M; Nyrönen, Tommi H; Courtot, Mélanie

High-throughput identification of RNA nuclear enrichment sequences

高通量鉴定 RNA 核富集序列

Chinmay J Shukla ,Alexandra L McCorkindale ,Chiara Gerhardinger ,Keegan D Korthauer ,Moran N Cabili ,David M Shechner ,Rafael A Irizarry ,Philipp G Maass ,John L Rinn

Simplifying research access to genomics and health data with Library Cards

利用图书馆卡简化基因组学和健康数据的研究获取

Cabili, Moran N; Carey, Knox; Dyke, Stephanie O M; Brookes, Anthony J; Fiume, Marc; Jeanson, Francis; Kerry, Giselle; Lash, Alex; Sofia, Heidi; Spalding, Dylan; Tasse, Anne-Marie; Varma, Susheel; Pandya, Ravi

Responsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M)

通过“自动化发现和访问矩阵”(ADA-M)负责任地共享生物医学数据和生物样本

Woolley, J Patrick; Kirby, Emily; Leslie, Josh; Jeanson, Francis; Cabili, Moran N; Rushton, Gregory; Hazard, James G; Ladas, Vagelis; Veal, Colin D; Gibson, Spencer J; Tassé, Anne-Marie; Dyke, Stephanie O M; Gaff, Clara; Thorogood, Adrian; Knoppers, Bartha Maria; Wilbanks, John; Brookes, Anthony J

Registered access: authorizing data access

注册访问权限:授权数据访问

Dyke, Stephanie O M; Linden, Mikael; Lappalainen, Ilkka; De Argila, Jordi Rambla; Carey, Knox; Lloyd, David; Spalding, J Dylan; Cabili, Moran N; Kerry, Giselle; Foreman, Julia; Cutts, Tim; Shabani, Mahsa; Rodriguez, Laura L; Haeussler, Maximilian; Walsh, Brian; Jiang, Xiaoqian; Wang, Shuang; Perrett, Daniel; Boughtwood, Tiffany; Matern, Andreas; Brookes, Anthony J; Cupak, Miro; Fiume, Marc; Pandya, Ravi; Tulchinsky, Ilia; Scollen, Serena; Törnroos, Juha; Das, Samir; Evans, Alan C; Malin, Bradley A; Beck, Stephan; Brenner, Steven E; Nyrönen, Tommi; Blomberg, Niklas; Firth, Helen V; Hurles, Matthew; Philippakis, Anthony A; Rätsch, Gunnar; Brudno, Michael; Boycott, Kym M; Rehm, Heidi L; Baudis, Michael; Sherry, Stephen T; Kato, Kazuto; Knoppers, Bartha M; Baker, Dixie; Flicek, Paul

Identifying recent adaptations in large-scale genomic data

利用大规模基因组数据识别近期适应性变化

Grossman, Sharon R; Andersen, Kristian G; Shlyakhter, Ilya; Tabrizi, Shervin; Winnicki, Sarah; Yen, Angela; Park, Daniel J; Griesemer, Dustin; Karlsson, Elinor K; Wong, Sunny H; Cabili, Moran; Adegbola, Richard A; Bamezai, Rameshwar N K; Hill, Adrian V S; Vannberg, Fredrik O; Rinn, John L; Lander, Eric S; Schaffner, Stephen F; Sabeti, Pardis C

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

导致1型髓样囊性肾病的突变位于MUC1基因的一个大型VNTR区域,而大规模平行测序未能检测到该区域。

Kirby, Andrew; Gnirke, Andreas; Jaffe, David B; Barešová, Veronika; Pochet, Nathalie; Blumenstiel, Brendan; Ye, Chun; Aird, Daniel; Stevens, Christine; Robinson, James T; Cabili, Moran N; Gat-Viks, Irit; Kelliher, Edward; Daza, Riza; DeFelice, Matthew; Hůlková, Helena; Sovová, Jana; Vylet'al, Petr; Antignac, Corinne; Guttman, Mitchell; Handsaker, Robert E; Perrin, Danielle; Steelman, Scott; Sigurdsson, Snaevar; Scheinman, Steven J; Sougnez, Carrie; Cibulskis, Kristian; Parkin, Melissa; Green, Todd; Rossin, Elizabeth; Zody, Michael C; Xavier, Ramnik J; Pollak, Martin R; Alper, Seth L; Lindblad-Toh, Kerstin; Gabriel, Stacey; Hart, P Suzanne; Regev, Aviv; Nusbaum, Chad; Kmoch, Stanislav; Bleyer, Anthony J; Lander, Eric S; Daly, Mark J

Peptidomic discovery of short open reading frame-encoded peptides in human cells

人类细胞中短开放阅读框编码肽的肽组学发现

Sarah A Slavoff, Andrew J Mitchell, Adam G Schwaid, Moran N Cabili, Jiao Ma, Joshua Z Levin, Amir D Karger, Bogdan A Budnik, John L Rinn, Alan Saghatelian