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

Population-scale Long-read Sequencing in the All of Us Research Program

“我们所有人”研究计划中的群体规模长读长测序

Garimella, Kiran V; Li, Qiuhui; Wertz, Julie; Lee, Samuel K; Cunial, Fabio; Huang, Yongqing; Mostovoy, Yulia; Lorig-Roach, Ryan; English, Adam; Su, Hang; Levy, Shawn; Muzny, Donna M; Berngruber, Chelsea; Danzi, Matt C; Harvey, William T; LaPlante, Emily L; Patterson, Karynne; Rozanski, Allison N; Schwartz, Sophie; Shifaw, Beri; Wang, Yuanyuan; Wong, Isaac; Xu, Isaac R L; Zaheri, Shadi; Zuchner, Stephan; Zheng, Xinchang; Dugan-Perez, Shannon; Izydorczyk, Michal; Mehta, Heer; Gibbs, Richard A; Lichtenstein, Lee; Gupta, Namrata; Lennon, Niall; Gabriel, Stacey; Timp, Winston; Doheny, Kimberly F; Dutka, Tara; Musick, Anjene; Wei, Chia-Lin; Sedlazeck, Fritz J; Schatz, Michael C; Talkowski, Michael E; Eichler, Evan E

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

在一组未确诊罕见遗传病家族中开展外显子组拷贝数变异的检测、分析和分类

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph G; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M; Töpf, Ana; Straub, Volker; Fleming, Mark D; Pollak, Martin R; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G; MacArthur, Daniel G; Rehm, Heidi L; Talkowski, Michael E; Brand, Harrison; O'Donnell-Luria, Anne

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

在一组未确诊罕见遗传病家族中检测、分析和分类外显子组拷贝数变异

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argili, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong; White, Susan M; Töpf, Ana; Straub, Volker; Fleming, Mark D; Pollak, Martin R; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G; MacArthur, Daniel G; Rehm, Heidi L; Talkowski, Michael E; Brand, Harrison; O'Donnell-Luria, Anne

Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.

代谢型谷氨酸受体 1 的突变是导致自然睡眠时间短特征的原因之一

Shi Guangsen, Yin Chen, Fan Zenghua, Xing Lijuan, Mostovoy Yulia, Kwok Pui-Yan, Ashbrook Liza H, Krystal Andrew D, Ptáček Louis J, Fu Ying-Hui

Genome maps across 26 human populations reveal population-specific patterns of structural variation

涵盖26个人类群体的基因组图谱揭示了群体特异性的结构变异模式

Levy-Sakin, Michal; Pastor, Steven; Mostovoy, Yulia; Li, Le; Leung, Alden K Y; McCaffrey, Jennifer; Young, Eleanor; Lam, Ernest T; Hastie, Alex R; Wong, Karen H Y; Chung, Claire Y L; Ma, Walfred; Sibert, Justin; Rajagopalan, Ramakrishnan; Jin, Nana; Chow, Eugene Y C; Chu, Catherine; Poon, Annie; Lin, Chin; Naguib, Ahmed; Wang, Wei-Ping; Cao, Han; Chan, Ting-Fung; Yip, Kevin Y; Xiao, Ming; Kwok, Pui-Yan

Evaluating the quality of the 1000 genomes project data

评估千人基因组计划数据的质量

Belsare, Saurabh; Levy-Sakin, Michal; Mostovoy, Yulia; Durinck, Steffen; Chaudhuri, Subhra; Xiao, Ming; Peterson, Andrew S; Kwok, Pui-Yan; Seshagiri, Somasekar; Wall, Jeffrey D

Comparative genome analysis of programmed DNA elimination in nematodes

线虫程序性DNA消除的比较基因组分析

Wang, Jianbin; Gao, Shenghan; Mostovoy, Yulia; Kang, Yuanyuan; Zagoskin, Maxim; Sun, Yongqiao; Zhang, Bing; White, Laura K; Easton, Alice; Nutman, Thomas B; Kwok, Pui-Yan; Hu, Songnian; Nielsen, Martin K; Davis, Richard E

A hybrid approach for de novo human genome sequence assembly and phasing

用于从头组装和定相的混合方法

Mostovoy, Yulia; Levy-Sakin, Michal; Lam, Jessica; Lam, Ernest T; Hastie, Alex R; Marks, Patrick; Lee, Joyce; Chu, Catherine; Lin, Chin; Džakula, Željko; Cao, Han; Schlebusch, Stephen A; Giorda, Kristina; Schnall-Levin, Michael; Wall, Jeffrey D; Kwok, Pui-Yan

Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays

利用纳米通道阵列进行基因组作图进行全基因组结构变异检测

Mak, Angel C Y; Lai, Yvonne Y Y; Lam, Ernest T; Kwok, Tsz-Piu; Leung, Alden K Y; Poon, Annie; Mostovoy, Yulia; Hastie, Alex R; Stedman, William; Anantharaman, Thomas; Andrews, Warren; Zhou, Xiang; Pang, Andy W C; Dai, Heng; Chu, Catherine; Lin, Chin; Wu, Jacob J K; Li, Catherine M L; Li, Jing-Woei; Yim, Aldrin K Y; Chan, Saki; Sibert, Justin; Džakula, Željko; Cao, Han; Yiu, Siu-Ming; Chan, Ting-Fung; Yip, Kevin Y; Xiao, Ming; Kwok, Pui-Yan

The Role of Transcription Factors at Antisense-Expressing Gene Pairs in Yeast

转录因子在酵母反义表达基因对中的作用

Mostovoy, Yulia; Thiemicke, Alexander; Hsu, Tiffany Y; Brem, Rachel B