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

High-quality mouse reference genomes reveal the structural complexity of the murine protein-coding landscape

高质量的小鼠参考基因组揭示了小鼠蛋白质编码图谱的结构复杂性

Helmy, Mohab; Li, Jin U; Yan, Xinyu F; Meade, Rachel K; Anderson, Elizabeth; Chen, Patrick B; Czechanski, Anne M; Di Domenico, Tomás; Flint, Jonathan; Garrison, Erik; Gontijo, Marco T P; Guarracino, Andrea; Haggerty, Leanne; Heard, Edith; Howe, Kerstin; Meena, Narendra; Martin, Fergal J; Miska, Eric A; Rall, Isabell; Ramakrishna, Navin B; Sapetschnig, Alexandra; Sinha, Swati; Sun, Diandian; Tricomi, Francesca F; Qu, Runjia; Wood, Jonathan M D; Wu, Tianzhen; Zhou, Dian J; Reinholdt, Laura; Adams, David J; Smith, Clare M; Lilue, Jingtao; Keane, Thomas M

Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres

两种小鼠亚种的完整基因组组装揭示了端粒和着丝粒的结构多样性

Francis, Bailey A; Gozashti, Landen; Costello, Kevin; Kasahara, Takaoki; Harringmeyer, Olivia S; Lilue, Jingtao; Wu, Tianzhen; Zoltowska, Katarzyna; Helmy, Mohab; Kato, Tadafumi; Czechanski, Anne; Bronner, Iraad F; Dawson, Emma; Quail, Michael A; Ferguson-Smith, Anne; Reinholdt, Laura; Adams, David J; Keane, Thomas M

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

ITPR3 中的显性负性变异会损害 T 细胞 Ca2+ 动力学,导致联合免疫缺陷

Blanco Elena, Camps Carme, Bahal Sameer, Kerai Mohit D, Ferla Matteo P, Rochussen Adam M, Handel Adam E, Golwala Zainab M, Spiridou Goncalves Helena, Kricke Susanne, Klein Fabian, Zhang Fang, Zinghirino Federica, Evans Grace, Keane Thomas M, Lizot Sabrina, Kusters Maaike A A, Iro Mildred A, Patel Sanjay V, Morris Emma C, Burns Siobhan O, Radcliffe Ruth, Vasudevan Pradeep, Price Arthur, Gillham Olivia, Valdebenito Gabriel E, Stewart Grant S, Worth Austen, Adams Stuart P, Duchen Michael, André Isabelle, Adams David J, Santili Giorgia, Gilmour Kimberly C, Holländer Georg A, Davies E Graham, Taylor Jenny C, Griffiths Gillian M, Thrasher Adrian J, Dhalla Fatima, Kreins Alexandra Y

A chromosome-level genome assembly of the Hispid cotton rat (Sigmodon hispidus), a model for human pathogenic virus infections

对棉鼠(Sigmodon hispidus)进行染色体水平基因组组装,棉鼠是人类致病病毒感染的模型。

Lilue, Jingtao; Corvelo, André; Gómez-Garrido, Jèssica; Akagi, Keiko; Yang, Fengtang; Green, Gia; Ng, Bee Ling; Fu, Beiyuan; Chorostecki, Uciel Pablo; Warner, Sarah C; Marcet-Houben, Marina; Keane, Thomas M; Mullikin, James C; Alioto, Tyler; Gabaldón, Toni; Hubert, Benjamin; Symer, David E; Niewiesk, Stefan

Young KRAB-zinc finger gene clusters are highly dynamic incubators of ERV-driven genetic heterogeneity in mice.

年轻的 KRAB 锌指基因簇是小鼠中 ERV 驱动的遗传异质性的高度动态孵化器

Bruno Melania, Maisha Sharaf, Mitra Apratim, Costello Kevin, Watkins-Chow Dawn, Logsdon Glennis A, Gambogi Craig W, Dumont Beth L, Black Ben E, Keane Thomas M, Ferguson-Smith Anne C, Dale Ryan, Macfarlan Todd S

CMAT: ClinVar Mapping and Annotation Toolkit

CMAT:ClinVar映射和注释工具包

Shen, April; Barbero, Marcos Casado; Koylass, Baron; Tsukanov, Kirill; Cezard, Tim; Keane, Thomas M

The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits

2型糖尿病知识门户:一个致力于2型糖尿病及相关性状的开放获取遗传资源库

Costanzo, Maria C; von Grotthuss, Marcin; Massung, Jeffrey; Jang, Dongkeun; Caulkins, Lizz; Koesterer, Ryan; Gilbert, Clint; Welch, Ryan P; Kudtarkar, Parul; Hoang, Quy; Boughton, Andrew P; Singh, Preeti; Sun, Ying; Duby, Marc; Moriondo, Annie; Nguyen, Trang; Smadbeck, Patrick; Alexander, Benjamin R; Brandes, MacKenzie; Carmichael, Mary; Dornbos, Peter; Green, Todd; Huellas-Bruskiewicz, Kenneth C; Ji, Yue; Kluge, Alexandria; McMahon, Aoife C; Mercader, Josep M; Ruebenacker, Oliver; Sengupta, Sebanti; Spalding, Dylan; Taliun, Daniel; Smith, Philip; Thomas, Melissa K; Akolkar, Beena; Brosnan, M Julia; Cherkas, Andriy; Chu, Audrey Y; Fauman, Eric B; Fox, Caroline S; Kamphaus, Tania Nayak; Miller, Melissa R; Nguyen, Lynette; Parsa, Afshin; Reilly, Dermot F; Ruetten, Hartmut; Wholley, David; Zaghloul, Norann A; Abecasis, Gonçalo R; Altshuler, David; Keane, Thomas M; McCarthy, Mark I; Gaulton, Kyle J; Florez, Jose C; Boehnke, Michael; Burtt, Noël P; Flannick, Jason

The European Variation Archive: a FAIR resource of genomic variation for all species

欧洲变异档案库:一个符合 FAIR 原则的适用于所有物种的基因组变异资源

Cezard, Timothe; Cunningham, Fiona; Hunt, Sarah E; Koylass, Baron; Kumar, Nitin; Saunders, Gary; Shen, April; Silva, Andres F; Tsukanov, Kirill; Venkataraman, Sundararaman; Flicek, Paul; Parkinson, Helen; Keane, Thomas M

The growing need for controlled data access models in clinical proteomics and metabolomics

临床蛋白质组学和代谢组学中对受控数据访问模型的需求日益增长

Keane, Thomas M; O'Donovan, Claire; Vizcaíno, Juan Antonio

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