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

Single-library chromosome-scale diploid assemblies of vole genomes resolve a species-specific duplication implicated in pair bonding

田鼠基因组的单文库染色体规模二倍体组装解析出了一个与配对结合相关的物种特异性重复序列。

Abuelanin, Mohamed; Kaya, Gulhan; Lake, Juniper A; Lambert, Christine; Wu, Melody V; Berendzen, Kristen M; Krasheninnikova, Ksenia; Wood, Jonathan M D; Solomon, Nancy G; Donaldson, Zoe R; Bales, Karen L; Howe, Kerstin; Korlach, Jonas; Manoli, Devanand; Tollkuhn, Jessica; Dennis, Megan Y

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

CiFi: accurate long-read chromosome conformation capture with low-input requirements

CiFi:以低投入量实现精确的长读长染色体构象捕获

McGinty, Sean P; Kaya, Gulhan; Sim, Sheina B; Makunin, Alex; Corpuz, Renée L; Quail, Michael A; Abuelanin, Mohamed; Lawniczak, Mara K N; Geib, Scott M; Korlach, Jonas; Dennis, Megan Y

CiFi: Accurate long-read chromatin conformation capture with low-input requirements.

CiFi:以低投入要求实现精确的长读染色质构象捕获

McGinty Sean P, Kaya Gulhan, Sim Sheina B, Corpuz Renée L, Quail Michael A, Lawniczak Mara K N, Geib Scott M, Korlach Jonas, Dennis Megan Y

The complete sequence of a human genome

人类基因组的完整序列

Nurk, Sergey; Koren, Sergey; Rhie, Arang; Rautiainen, Mikko; Bzikadze, Andrey V; Mikheenko, Alla; Vollger, Mitchell R; Altemose, Nicolas; Uralsky, Lev; Gershman, Ariel; Aganezov, Sergey; Hoyt, Savannah J; Diekhans, Mark; Logsdon, Glennis A; Alonge, Michael; Antonarakis, Stylianos E; Borchers, Matthew; Bouffard, Gerard G; Brooks, Shelise Y; Caldas, Gina V; Chen, Nae-Chyun; Cheng, Haoyu; Chin, Chen-Shan; Chow, William; de Lima, Leonardo G; Dishuck, Philip C; Durbin, Richard; Dvorkina, Tatiana; Fiddes, Ian T; Formenti, Giulio; Fulton, Robert S; Fungtammasan, Arkarachai; Garrison, Erik; Grady, Patrick G S; Graves-Lindsay, Tina A; Hall, Ira M; Hansen, Nancy F; Hartley, Gabrielle A; Haukness, Marina; Howe, Kerstin; Hunkapiller, Michael W; Jain, Chirag; Jain, Miten; Jarvis, Erich D; Kerpedjiev, Peter; Kirsche, Melanie; Kolmogorov, Mikhail; Korlach, Jonas; Kremitzki, Milinn; Li, Heng; Maduro, Valerie V; Marschall, Tobias; McCartney, Ann M; McDaniel, Jennifer; Miller, Danny E; Mullikin, James C; Myers, Eugene W; Olson, Nathan D; Paten, Benedict; Peluso, Paul; Pevzner, Pavel A; Porubsky, David; Potapova, Tamara; Rogaev, Evgeny I; Rosenfeld, Jeffrey A; Salzberg, Steven L; Schneider, Valerie A; Sedlazeck, Fritz J; Shafin, Kishwar; Shew, Colin J; Shumate, Alaina; Sims, Ying; Smit, Arian F A; Soto, Daniela C; Sović, Ivan; Storer, Jessica M; Streets, Aaron; Sullivan, Beth A; Thibaud-Nissen, Françoise; Torrance, James; Wagner, Justin; Walenz, Brian P; Wenger, Aaron; Wood, Jonathan M D; Xiao, Chunlin; Yan, Stephanie M; Young, Alice C; Zarate, Samantha; Surti, Urvashi; McCoy, Rajiv C; Dennis, Megan Y; Alexandrov, Ivan A; Gerton, Jennifer L; O'Neill, Rachel J; Timp, Winston; Zook, Justin M; Schatz, Michael C; Eichler, Evan E; Miga, Karen H; Phillippy, Adam M

Evolution of the ancestral mammalian karyotype and syntenic regions

哺乳动物祖先核型和同源区域的演化

Damas, Joana; Corbo, Marco; Kim, Jaebum; Turner-Maier, Jason; Farré, Marta; Larkin, Denis M; Ryder, Oliver A; Steiner, Cynthia; Houck, Marlys L; Hall, Shaune; Shiue, Lily; Thomas, Stephen; Swale, Thomas; Daly, Mark; Korlach, Jonas; Uliano-Silva, Marcela; Mazzoni, Camila J; Birren, Bruce W; Genereux, Diane P; Johnson, Jeremy; Lindblad-Toh, Kerstin; Karlsson, Elinor K; Nweeia, Martin T; Johnson, Rebecca N; Lewin, Harris A

Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery

NUDT15长读长HiFi测序:全基因单倍型分型和药物基因组学等位基因发现

Scott, Erick R; Yang, Yao; Botton, Mariana R; Seki, Yoshinori; Hoshitsuki, Keito; Harting, John; Baybayan, Primo; Cody, Neal; Nicoletti, Paola; Moriyama, Takaya; Chakraborty, Shreyasee; Yang, Jun J; Edelmann, Lisa; Schadt, Eric E; Korlach, Jonas; Scott, Stuart A

Platypus and echidna genomes reveal mammalian biology and evolution

鸭嘴兽和针鼹基因组揭示哺乳动物的生物学和进化

Zhou, Yang; Shearwin-Whyatt, Linda; Li, Jing; Song, Zhenzhen; Hayakawa, Takashi; Stevens, David; Fenelon, Jane C; Peel, Emma; Cheng, Yuanyuan; Pajpach, Filip; Bradley, Natasha; Suzuki, Hikoyu; Nikaido, Masato; Damas, Joana; Daish, Tasman; Perry, Tahlia; Zhu, Zexian; Geng, Yuncong; Rhie, Arang; Sims, Ying; Wood, Jonathan; Haase, Bettina; Mountcastle, Jacquelyn; Fedrigo, Olivier; Li, Qiye; Yang, Huanming; Wang, Jian; Johnston, Stephen D; Phillippy, Adam M; Howe, Kerstin; Jarvis, Erich D; Ryder, Oliver A; Kaessmann, Henrik; Donnelly, Peter; Korlach, Jonas; Lewin, Harris A; Graves, Jennifer; Belov, Katherine; Renfree, Marilyn B; Grutzner, Frank; Zhou, Qi; Zhang, Guojie

Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain

人类亚端粒区域VNTR相关多态性的极度富集:含有最多VNTR的基因主要在大脑中表达

Linthorst, Jasper; Meert, Wim; Hestand, Matthew S; Korlach, Jonas; Vermeesch, Joris Robert; Reinders, Marcel J T; Holstege, Henne

Multi-platform discovery of haplotype-resolved structural variation in human genomes

利用多平台发现人类基因组中单倍型解析的结构变异

Chaisson, Mark J P; Sanders, Ashley D; Zhao, Xuefang; Malhotra, Ankit; Porubsky, David; Rausch, Tobias; Gardner, Eugene J; Rodriguez, Oscar L; Guo, Li; Collins, Ryan L; Fan, Xian; Wen, Jia; Handsaker, Robert E; Fairley, Susan; Kronenberg, Zev N; Kong, Xiangmeng; Hormozdiari, Fereydoun; Lee, Dillon; Wenger, Aaron M; Hastie, Alex R; Antaki, Danny; Anantharaman, Thomas; Audano, Peter A; Brand, Harrison; Cantsilieris, Stuart; Cao, Han; Cerveira, Eliza; Chen, Chong; Chen, Xintong; Chin, Chen-Shan; Chong, Zechen; Chuang, Nelson T; Lambert, Christine C; Church, Deanna M; Clarke, Laura; Farrell, Andrew; Flores, Joey; Galeev, Timur; Gorkin, David U; Gujral, Madhusudan; Guryev, Victor; Heaton, William Haynes; Korlach, Jonas; Kumar, Sushant; Kwon, Jee Young; Lam, Ernest T; Lee, Jong Eun; Lee, Joyce; Lee, Wan-Ping; Lee, Sau Peng; Li, Shantao; Marks, Patrick; Viaud-Martinez, Karine; Meiers, Sascha; Munson, Katherine M; Navarro, Fabio C P; Nelson, Bradley J; Nodzak, Conor; Noor, Amina; Kyriazopoulou-Panagiotopoulou, Sofia; Pang, Andy W C; Qiu, Yunjiang; Rosanio, Gabriel; Ryan, Mallory; Stütz, Adrian; Spierings, Diana C J; Ward, Alistair; Welch, AnneMarie E; Xiao, Ming; Xu, Wei; Zhang, Chengsheng; Zhu, Qihui; Zheng-Bradley, Xiangqun; Lowy, Ernesto; Yakneen, Sergei; McCarroll, Steven; Jun, Goo; Ding, Li; Koh, Chong Lek; Ren, Bing; Flicek, Paul; Chen, Ken; Gerstein, Mark B; Kwok, Pui-Yan; Lansdorp, Peter M; Marth, Gabor T; Sebat, Jonathan; Shi, Xinghua; Bashir, Ali; Ye, Kai; Devine, Scott E; Talkowski, Michael E; Mills, Ryan E; Marschall, Tobias; Korbel, Jan O; Eichler, Evan E; Lee, Charles