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

The formation and propagation of human Robertsonian chromosomes

人类罗伯逊染色体的形成和传播

de Lima, Leonardo Gomes; Guarracino, Andrea; Koren, Sergey; Potapova, Tamara; McKinney, Sean; Rhie, Arang; Solar, Steven J; Seidel, Chris; Fagen, Brandon L; Walenz, Brian P; Bouffard, Gerard G; Brooks, Shelise Y; Peterson, Michael; Hall, Kate; Crawford, Juyun; Young, Alice C; Pickett, Brandon D; Garrison, Erik; Phillippy, Adam M; Gerton, Jennifer L

The complete sequence and comparative analysis of ape sex chromosomes

猿类性染色体的完整序列及比较分析

Makova, Kateryna D; Pickett, Brandon D; Harris, Robert S; Hartley, Gabrielle A; Cechova, Monika; Pal, Karol; Nurk, Sergey; Yoo, DongAhn; Li, Qiuhui; Hebbar, Prajna; McGrath, Barbara C; Antonacci, Francesca; Aubel, Margaux; Biddanda, Arjun; Borchers, Matthew; Bornberg-Bauer, Erich; Bouffard, Gerard G; Brooks, Shelise Y; Carbone, Lucia; Carrel, Laura; Carroll, Andrew; Chang, Pi-Chuan; Chin, Chen-Shan; Cook, Daniel E; Craig, Sarah J C; de Gennaro, Luciana; Diekhans, Mark; Dutra, Amalia; Garcia, Gage H; Grady, Patrick G S; Green, Richard E; Haddad, Diana; Hallast, Pille; Harvey, William T; Hickey, Glenn; Hillis, David A; Hoyt, Savannah J; Jeong, Hyeonsoo; Kamali, Kaivan; Pond, Sergei L Kosakovsky; LaPolice, Troy M; Lee, Charles; Lewis, Alexandra P; Loh, Yong-Hwee E; Masterson, Patrick; McGarvey, Kelly M; McCoy, Rajiv C; Medvedev, Paul; Miga, Karen H; Munson, Katherine M; Pak, Evgenia; Paten, Benedict; Pinto, Brendan J; Potapova, Tamara; Rhie, Arang; Rocha, Joana L; Ryabov, Fedor; Ryder, Oliver A; Sacco, Samuel; Shafin, Kishwar; Shepelev, Valery A; Slon, Viviane; Solar, Steven J; Storer, Jessica M; Sudmant, Peter H; Sweetalana; Sweeten, Alex; Tassia, Michael G; Thibaud-Nissen, Françoise; Ventura, Mario; Wilson, Melissa A; Young, Alice C; Zeng, Huiqing; Zhang, Xinru; Szpiech, Zachary A; Huber, Christian D; Gerton, Jennifer L; Yi, Soojin V; Schatz, Michael C; Alexandrov, Ivan A; Koren, Sergey; O'Neill, Rachel J; Eichler, Evan E; Phillippy, Adam M

The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes

猿类性染色体的完整序列及比较分析

Makova, Kateryna D; Pickett, Brandon D; Harris, Robert S; Hartley, Gabrielle A; Cechova, Monika; Pal, Karol; Nurk, Sergey; Yoo, DongAhn; Li, Qiuhui; Hebbar, Prajna; McGrath, Barbara C; Antonacci, Francesca; Aubel, Margaux; Biddanda, Arjun; Borchers, Matthew; Bomberg, Erich; Bouffard, Gerard G; Brooks, Shelise Y; Carbone, Lucia; Carrel, Laura; Carroll, Andrew; Chang, Pi-Chuan; Chin, Chen-Shan; Cook, Daniel E; Craig, Sarah J C; de Gennaro, Luciana; Diekhans, Mark; Dutra, Amalia; Garcia, Gage H; Grady, Patrick G S; Green, Richard E; Haddad, Diana; Hallast, Pille; Harvey, William T; Hickey, Glenn; Hillis, David A; Hoyt, Savannah J; Jeong, Hyeonsoo; Kamali, Kaivan; Kosakovsky Pond, Sergei L; LaPolice, Troy M; Lee, Charles; Lewis, Alexandra P; Loh, Yong-Hwee E; Masterson, Patrick; McCoy, Rajiv C; Medvedev, Paul; Miga, Karen H; Munson, Katherine M; Pak, Evgenia; Paten, Benedict; Pinto, Brendan J; Potapova, Tamara; Rhie, Arang; Rocha, Joana L; Ryabov, Fedor; Ryder, Oliver A; Sacco, Samuel; Shafin, Kishwar; Shepelev, Valery A; Slon, Viviane; Solar, Steven J; Storer, Jessica M; Sudmant, Peter H; Sweetalana; Sweeten, Alex; Tassia, Michael G; Thibaud-Nissen, Françoise; Ventura, Mario; Wilson, Melissa A; Young, Alice C; Zeng, Huiqing; Zhang, Xinru; Szpiech, Zachary A; Huber, Christian D; Gerton, Jennifer L; Yi, Soojin V; Schatz, Michael C; Alexandrov, Ivan A; Koren, Sergey; O'Neill, Rachel J; Eichler, Evan; Phillippy, Adam M

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

Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion.

对一个患有家族性皮质肌阵挛性震颤伴癫痫和 SAMD12 内含子重复扩增的中国大家族进行临床和基因组分析

Zhou Yongxing, Sood Raman, Wang Qun, Carrington Blake, Park Morgan, Young Alice C, Birnbaum Daniel, Liu Zhao, Ashizawa Tetsuo, Mullikin James C, Koubeissi Mohamad Z, Liu Paul

Plasmid Dynamics in KPC-Positive Klebsiella pneumoniae during Long-Term Patient Colonization

长期患者定植期间KPC阳性肺炎克雷伯菌的质粒动态

Conlan, Sean; Park, Morgan; Deming, Clayton; Thomas, Pamela J; Young, Alice C; Coleman, Holly; Sison, Christina; Weingarten, Rebecca A; Lau, Anna F; Dekker, John P; Palmore, Tara N; Frank, Karen M; Segre, Julia A

Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae

利用单分子测序技术追踪医院相关产碳青霉烯酶肠杆菌科细菌的质粒多样性

Conlan, Sean; Thomas, Pamela J; Deming, Clayton; Park, Morgan; Lau, Anna F; Dekker, John P; Snitkin, Evan S; Clark, Tyson A; Luong, Khai; Song, Yi; Tsai, Yu-Chih; Boitano, Matthew; Dayal, Jyoti; Brooks, Shelise Y; Schmidt, Brian; Young, Alice C; Thomas, James W; Bouffard, Gerard G; Blakesley, Robert W; Mullikin, James C; Korlach, Jonas; Henderson, David K; Frank, Karen M; Palmore, Tara N; Segre, Julia A

Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans

基于基因测序的技术鉴定出影响脂质代谢的变异体,这些变异体在非裔美国人中具有种族特异性效应。

Bentley, Amy R; Chen, Guanjie; Shriner, Daniel; Doumatey, Ayo P; Zhou, Jie; Huang, Hanxia; Mullikin, James C; Blakesley, Robert W; Hansen, Nancy F; Bouffard, Gerard G; Cherukuri, Praveen F; Maskeri, Baishali; Young, Alice C; Adeyemo, Adebowale; Rotimi, Charles N

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

TTC21B 在纤毛病谱系中既包含致病等位基因,也包含修饰等位基因。

Davis, Erica E; Zhang, Qi; Liu, Qin; Diplas, Bill H; Davey, Lisa M; Hartley, Jane; Stoetzel, Corinne; Szymanska, Katarzyna; Ramaswami, Gokul; Logan, Clare V; Muzny, Donna M; Young, Alice C; Wheeler, David A; Cruz, Pedro; Morgan, Margaret; Lewis, Lora R; Cherukuri, Praveen; Maskeri, Baishali; Hansen, Nancy F; Mullikin, James C; Blakesley, Robert W; Bouffard, Gerard G; Gyapay, Gabor; Rieger, Susanne; Tönshoff, Burkhard; Kern, Ilse; Soliman, Neveen A; Neuhaus, Thomas J; Swoboda, Kathryn J; Kayserili, Hulya; Gallagher, Tomas E; Lewis, Richard A; Bergmann, Carsten; Otto, Edgar A; Saunier, Sophie; Scambler, Peter J; Beales, Philip L; Gleeson, Joseph G; Maher, Eamonn R; Attié-Bitach, Tania; Dollfus, Hélène; Johnson, Colin A; Green, Eric D; Gibbs, Richard A; Hildebrandt, Friedhelm; Pierce, Eric A; Katsanis, Nicholas

Personalized genomic medicine: lessons from the exome

个性化基因组医学:来自外显子组的启示

Solomon, Benjamin D; Pineda-Alvarez, Daniel E; Hadley, Donald W; NISC Comparative Sequencing Program; Teer, Jamie K; Cherukuri, Praveen F; Hansen, Nancy F; Cruz, Pedro; Young, Alice C; Blakesley, Robert W; Lanpher, Brendan; Mayfield Gibson, Stephanie; Sincan, Murat; Chandrasekharappa, Settara C; Mullikin, James C