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

Towards a reference genome that captures global genetic diversity

构建能够反映全球遗传多样性的参考基因组

Wong, Karen H Y; Ma, Walfred; Wei, Chun-Yu; Yeh, Erh-Chan; Lin, Wan-Jia; Wang, Elin H F; Su, Jen-Ping; Hsieh, Feng-Jen; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Chow, Stephen K; Young, Eleanor; Chu, Catherine; Poon, Annie; Yang, Chi-Fan; Lin, Dar-Shong; Hu, Yu-Feng; Wu, Jer-Yuarn; Lee, Ni-Chung; Hwu, Wuh-Liang; Boffelli, Dario; Martin, David; Xiao, Ming; Kwok, Pui-Yan

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

OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps

OMSV能够从基于纳米通道的单分子光学图中准确、全面地识别较大的结构变化。

Li, Le; Leung, Alden King-Yung; Kwok, Tsz-Piu; Lai, Yvonne Y Y; Pang, Iris K; Chung, Grace Tin-Yun; Mak, Angel C Y; Poon, Annie; Chu, Catherine; Li, Menglu; Wu, Jacob J K; Lam, Ernest T; Cao, Han; Lin, Chin; Sibert, Justin; Yiu, Siu-Ming; Xiao, Ming; Lo, Kwok-Wai; Kwok, Pui-Yan; Chan, Ting-Fung; Yip, Kevin Y

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

Impact of bronchopulmonary dysplasia on brain and retina

支气管肺发育不良对大脑和视网膜的影响

Poon, Annie Wing Hoi; Ma, Emilie Xiao Hang; Vadivel, Arul; Jung, Suna; Khoja, Zehra; Stephens, Laurel; Thébaud, Bernard; Wintermark, Pia

Prioritizing causal disease genes using unbiased genomic features

利用无偏基因组特征对致病基因进行优先级排序

Deo, Rahul C; Musso, Gabriel; Tasan, Murat; Tang, Paul; Poon, Annie; Yuan, Christiana; Felix, Janine F; Vasan, Ramachandran S; Beroukhim, Rameen; De Marco, Teresa; Kwok, Pui-Yan; MacRae, Calum A; Roth, Frederick P

Single-nucleotide polymorphisms in the β-adrenergic receptor genes are associated with lung allograft utilization

β-肾上腺素能受体基因中的单核苷酸多态性与肺移植利用率相关。

Sapru, Anil; Pawlikowska, Ludmila; Liu, Kathleen D; Khush, Kiran K; Ann-Baxter-Lowe, Lee; Hayden, Vanessa; Menza, Rebecca L; Convery, Maureen; Poon, Annie; Landeck, Megan; Zaroff, Jonathan G; Matthay, Michael A

Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations.

血管生成素样 4 (ANGPTL4) 基因多态性与脑动静脉畸形风险

Mikhak Bahar, Weinsheimer Shantel, Pawlikowska Ludmila, Poon Annie, Kwok Pui-Yan, Lawton Michael T, Chen Yongmei, Zaroff Jonathan G, Sidney Stephen, McCulloch Charles E, Young William L, Kim Helen

Association analysis identifies ZNF750 regulatory variants in psoriasis

关联分析发现银屑病中存在ZNF750调控变异

Birnbaum, Ramon Y; Hayashi, Genki; Cohen, Idan; Poon, Annie; Chen, Haoyan; Lam, Ernest T; Kwok, Pui-Yan; Birk, Ohad S; Liao, Wilson

Carriers of rare missense variants in IFIH1 are protected from psoriasis

携带IFIH1罕见错义变异的个体不会患银屑病。

Li, Yonghong; Liao, Wilson; Cargill, Michele; Chang, Monica; Matsunami, Nori; Feng, Bing-Jian; Poon, Annie; Callis-Duffin, Kristina P; Catanese, Joseph J; Bowcock, Anne M; Leppert, Mark F; Kwok, Pui-Yan; Krueger, Gerald G; Begovich, Ann B