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

FAVOR 2.0: A reengineered functional annotation of variants online resource for interpreting genomic variation

FAVOR 2.0:一个重新设计的在线变异功能注释资源,用于解释基因组变异

Zhou, Hufeng; Verma, Vineet; Li, Xihao; Li, Zilin; Shedd, Nicole; Li, Thomas Cheng; Yang, Haoyu; Zhang, Alvin; Borsari, Beatrice; Buyske, Steven; Gerstein, Mark; Matise, Tara; Zody, Michael C; Neale, Benjamin; Weng, Zhiping; Sunyaev, Shamil R; Lin, Xihong

Comparison of variant callers using 60 532 multi-ancestry whole genome sequences

利用 60532 个多祖先全基因组序列对变异检测器进行比较

Zhou, Hufeng; Li, Zilin; Shyr, Derek; Li, Xihao; Yang, Haoyu; Dey, Rounak; Tang, Yushi; Maier, Robert; Boerwinkle, Eric; Buyske, Steve; Daly, Mark; Felsenfeld, Adam; Gibbs, Richard A; Gupta, Namrata; Hall, Ira M; Matise, Tara; Metcalf, Ginger A; Smith, Albert; Reeves, Catherine; Sofia, Heidi J; Stitziel, Nathan O; Zody, Michael C; Neale, Benjamin; Lin, Xihong

Lancet2: Improved and accelerated somatic variant calling with joint multi-sample local assembly graphs

Lancet2:利用联合多样本局部组装图改进和加速体细胞变异检测

Musunuri, Rajeeva Lochan; Zhu, Bryan; Clarke, Wayne E; Hooper, William; Chu, Timothy; Shelton, Jennifer; Corvelo, André; Chung, Dickson; Sundar, Shreya; Novak, Adam M; Paten, Benedict; Zody, Michael C; Robine, Nicolas; Narzisi, Giuseppe

Complex genetic variation in nearly complete human genomes

近乎完整的人类基因组中存在复杂的遗传变异

Logsdon, Glennis A; Ebert, Peter; Audano, Peter A; Loftus, Mark; Porubsky, David; Ebler, Jana; Yilmaz, Feyza; Hallast, Pille; Prodanov, Timofey; Yoo, DongAhn; Paisie, Carolyn A; Harvey, William T; Zhao, Xuefang; Martino, Gianni V; Henglin, Mir; Munson, Katherine M; Rabbani, Keon; Chin, Chen-Shan; Gu, Bida; Ashraf, Hufsah; Scholz, Stephan; Austine-Orimoloye, Olanrewaju; Balachandran, Parithi; Bonder, Marc Jan; Cheng, Haoyu; Chong, Zechen; Crabtree, Jonathan; Gerstein, Mark; Guethlein, Lisbeth A; Hasenfeld, Patrick; Hickey, Glenn; Hoekzema, Kendra; Hunt, Sarah E; Jensen, Matthew; Jiang, Yunzhe; Koren, Sergey; Kwon, Youngjun; Li, Chong; Li, Heng; Li, Jiaqi; Norman, Paul J; Oshima, Keisuke K; Paten, Benedict; Phillippy, Adam M; Pollock, Nicholas R; Rausch, Tobias; Rautiainen, Mikko; Song, Yuwei; Söylev, Arda; Sulovari, Arvis; Surapaneni, Likhitha; Tsapalou, Vasiliki; Zhou, Weichen; Zhou, Ying; Zhu, Qihui; Zody, Michael C; Mills, Ryan E; Devine, Scott E; Shi, Xinghua; Talkowski, Michael E; Chaisson, Mark J P; Dilthey, Alexander T; Konkel, Miriam K; Korbel, Jan O; Lee, Charles; Beck, Christine R; Eichler, Evan E; Marschall, Tobias

Author Correction: Complex genetic variation in nearly complete human genomes

作者更正:近乎完整的人类基因组中存在复杂的遗传变异

Logsdon, Glennis A; Ebert, Peter; Audano, Peter A; Loftus, Mark; Porubsky, David; Ebler, Jana; Yilmaz, Feyza; Hallast, Pille; Prodanov, Timofey; Yoo, DongAhn; Paisie, Carolyn A; Harvey, William T; Zhao, Xuefang; Martino, Gianni V; Henglin, Mir; Munson, Katherine M; Rabbani, Keon; Chin, Chen-Shan; Gu, Bida; Ashraf, Hufsah; Scholz, Stephan; Austine-Orimoloye, Olanrewaju; Balachandran, Parithi; Bonder, Marc Jan; Cheng, Haoyu; Chong, Zechen; Crabtree, Jonathan; Gerstein, Mark; Guethlein, Lisbeth A; Hasenfeld, Patrick; Hickey, Glenn; Hoekzema, Kendra; Hunt, Sarah E; Jensen, Matthew; Jiang, Yunzhe; Koren, Sergey; Kwon, Youngjun; Li, Chong; Li, Heng; Li, Jiaqi; Norman, Paul J; Oshima, Keisuke K; Paten, Benedict; Phillippy, Adam M; Pollock, Nicholas R; Rausch, Tobias; Rautiainen, Mikko; Song, Yuwei; Söylev, Arda; Sulovari, Arvis; Surapaneni, Likhitha; Tsapalou, Vasiliki; Zhou, Weichen; Zhou, Ying; Zhu, Qihui; Zody, Michael C; Mills, Ryan E; Devine, Scott E; Shi, Xinghua; Talkowski, Michael E; Chaisson, Mark J P; Dilthey, Alexander T; Konkel, Miriam K; Korbel, Jan O; Lee, Charles; Beck, Christine R; Eichler, Evan E; Marschall, Tobias

Error-corrected flow-based sequencing at whole-genome scale and its application to circulating cell-free DNA profiling

全基因组规模的纠错流式测序及其在循环游离DNA分析中的应用

Cheng, Alexandre Pellan; Widman, Adam J; Arora, Anushri; Rusinek, Itai; Sossin, Aaron; Rajagopalan, Srinivas; Midler, Nicholas; Hooper, William F; Murray, Rebecca M; Halmos, Daniel; Langanay, Theophile; Chu, Hoyin; Inghirami, Giorgio; Potenski, Catherine; Germer, Soren; Marton, Melissa; Manaa, Dina; Helland, Adrienne; Furatero, Rob; McClintock, Jaime; Winterkorn, Lara; Steinsnyder, Zoe; Wang, Yohyoh; Alimohamed, Asrar I; Malbari, Murtaza S; Saxena, Ashish; Callahan, Margaret K; Frederick, Dennie T; Spain, Lavinia; Sigouros, Michael; Manohar, Jyothi; King, Abigail; Wilkes, David; Otilano, John; Elemento, Olivier; Mosquera, Juan Miguel; Jaimovich, Ariel; Lipson, Doron; Turajlic, Samra; Zody, Michael C; Altorki, Nasser K; Wolchok, Jedd D; Postow, Michael A; Robine, Nicolas; Faltas, Bishoy M; Boland, Genevieve; Landau, Dan A

A rare genetic variant confers resistance to neurodegeneration across multiple neurological disorders by augmenting selective autophagy.

一种罕见的基因变异通过增强选择性自噬,赋予多种神经系统疾病对神经退行性疾病的抵抗力。

Croce Katherine R, Ng Christopher, Pankiv Serihy, Albarran Eddy, Langfelder Peter, Ramos de Jesus Ana, Duncan Glenn M, Wang Nan, Basile Anna, McHugh Caitlin, Litt Nicole A, Li Alina, Friedman Sophia, Cortes Etty P, Zody Michael C, Yang X William, Ding Jun B, Vonsattel Jean Paul G, Simonsen Anne, Housman David E, Wexler Nancy S, Yamamoto Ai

Stratifying ALS Patients by Mode of Inheritance Reveals Transcriptomic Signatures Specific to sALS and fALS

根据遗传模式对ALS患者进行分层,揭示了sALS和fALS特有的转录组特征

Awai, Alexandria; Johnson, Erica L; Leng, Tiandong; Patrickson, John; Zody, Michael C; Lillard, James W Jr; On Behalf Of The Nygc Als Consortium

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)

光学基因组图谱揭示儿童多系统炎症综合征 (MIS-C) 中的罕见结构变异

Brownstein, Catherine A; van der Made, Caspar I; Cabral, Kristin; Rockowitz, Shira; Kang, Donghun; Schieck, Maximilian; Pang, Andy Wing Chun; Robinson, Jeffrey M; Hastie, Alex R; Chaubey, Alka; Hoischen, Alexander; Beggs, Alan H; Adebamowo, Clement A; Andalibi, Ali; Bacanu, Silviu-Alin; Bafna, Vineet; Bahl, Justin; Barseghyan, Hayk; Beggs, Alan; Burdette, Laurie; Butte, Manish; Constantoulakis, Pantelis; Crandall, Keith A; Dehkordi, Siavash R; Dennis, Megan; Fang, Gang; Fedrigo, Olivier; Finlay, Darren; Goldman, Michael A; Gurusamy, Umamaheswaran; Hayes, Vanessa; Hickey, Glenn; Hoischen, Alexander; Illig, Thomas; Ioannidis, Alexander; Jarvis, Erich; Koizumi, Naoru; Kolhe, Ravindra; Laamarti, Meriem; Labranche, Celia; Leibel, Sandra; Levy, Brynn; Loose, Matthew; Mello, Claudio; Nasir, Jamal; Phung, Thuy L; Rao, Chethan P Venkatasubba; Ross, Ted; Sahajpal, Nikhil S; Shamanna, Rashmi K; Soto, Daniela C; Trablesi, Amir; Wang, Zi-Xuan; Williams, Sion Llewelyn; Wright, Victoria; Zhao, Hua; Zody, Michael

A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma.

一项针对非洲裔人群的多队列全基因组关联研究揭示了原发性开角型青光眼的风险位点

Verma Shefali S, Gudiseva Harini V, Chavali Venkata R M, Salowe Rebecca J, Bradford Yuki, Guare Lindsay, Lucas Anastasia, Collins David W, Vrathasha Vrathasha, Nair Rohini M, Rathi Sonika, Zhao Bingxin, He Jie, Lee Roy, Zenebe-Gete Selam, Bowman Anita S, McHugh Caitlin P, Zody Michael C, Pistilli Maxwell, Khachatryan Naira, Daniel Ebenezer, Murphy Windell, Henderer Jeffrey, Kinzy Tyler G, Iyengar Sudha K, Peachey Neal S, Taylor Kent D, Guo Xiuqing, Chen Yii-Der Ida, Zangwill Linda, Girkin Christopher, Ayyagari Radha, Liebmann Jeffrey, Chuka-Okosa Chimd M, Williams Susan E, Akafo Stephen, Budenz Donald L, Olawoye Olusola O, Ramsay Michele, Ashaye Adeyinka, Akpa Onoja M, Aung Tin, Wiggs Janey L, Ross Ahmara G, Cui Qi N, Addis Victoria, Lehman Amanda, Miller-Ellis Eydie, Sankar Prithvi S, Williams Scott M, Ying Gui-Shuang, Cooke Bailey Jessica, Rotter Jerome I, Weinreb Robert, Khor Chiea Chuen, Hauser Michael A, Ritchie Marylyn D, O'Brien Joan M