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

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

Fully T2T pedigree assemblies reveal genetic stability and epigenetic plasticity of human centromeres across inheritance and cell-fate transitions

完全T2T谱系组装揭示了人类着丝粒在遗传和细胞命运转变过程中的遗传稳定性和表观遗传可塑性

Dong, Shihua; Xing, Xiaoyun; Cechova, Monika; Loucks, Hailey; Vijayalingam, Selvamani; Neilson, Amber; Sentmanat, Monica; Macias, Juan; Liu, Tianjie; Dong, Zheng; Miao, Benpeng; Zhang, Wenjin; Tomlinson, Chad; Schmidt, Heather; Belter, Edward A Jr; Hu, Ming; Cui, Xiaoxia; Stitziel, Nathan O; Miga, Karen H; Wang, Ting

LRRC8 complexes are ATP release channels that regulate platelet activation and arterial thrombosis

LRRC8复合物是ATP释放通道,可调节血小板活化和动脉血栓形成。

Tranter, John D; Mikami, Ryan T; Kumar, Ashutosh; Brown, Gavriel; Abd El-Aziz, Tarek Mohamed; Zhao, Yonghui; Arullampalam, Prakash; Ashworth, Katrina; Jha, Vishwanath; Abraham, Nihil; Meyer, Chloe; Ajanel, Abigail; Xie, Litao; Feng, Yongmei; Hong, Juan; Zhang, Haixia; Kumari, Tripti; Balutowski, Adam; Liu, Alice; Bark, David; Nair, Vinayak K; Lasky, Nina M; Stitziel, Nathan O; Lerner, Daniel J; Campbell, Robert A; Di Paola, Jorge; Cho, Jaehyung; Sah, Rajan

Effect of complete, lifelong ANGPTL3 deficiency on triglyceride-rich lipoprotein kinetics.

终生 ANGPTL3 完全缺乏对富含甘油三酯的脂蛋白动力学的影响

Fappi Alan, Patterson Bruce W, Burks Kendal H, Davidson Nicholas O, Vaisar Tomas, Kanter Jenny E, Bornfeldt Karin E, Fisher Edward A, Goldberg Ira J, Stitziel Nathan O, Mittendorfer Bettina

Molecular Regulation and Therapeutic Targeting of VLDL Production in Cardiometabolic Disease

心血管代谢疾病中极低密度脂蛋白(VLDL)生成的分子调控和治疗靶向

Burks, Kendall H; Stitziel, Nathan O; Davidson, Nicholas O

Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants

通过常见和罕见的结构变异揭示冠状动脉疾病的遗传图谱

Iyer, Kruthika R; Clarke, Shoa L; Guarischi-Sousa, Rodrigo; Gjoni, Ketrin; Heath, Adam S; Young, Erica P; Stitziel, Nathan O; Laurie, Cecelia; Broome, Jai G; Khan, Alyna T; Lewis, Joshua P; Xu, Huichun; Montasser, May E; Ashley, Kellan E; Hasbani, Natalie R; Boerwinkle, Eric; Morrison, Alanna C; Chami, Nathalie; Do, Ron; Rocheleau, Ghislain; Lloyd-Jones, Donald M; Lemaitre, Rozenn N; Bis, Joshua C; Floyd, James S; Kinney, Gregory L; Bowden, Donald W; Palmer, Nicholette D; Benjamin, Emelia J; Nayor, Matthew; Yanek, Lisa R; Kral, Brian G; Becker, Lewis C; Kardia, Sharon L R; Smith, Jennifer A; Bielak, Lawrence F; Norwood, Arnita F; Min, Yuan-I; Carson, April P; Post, Wendy S; Rich, Stephen S; Herrington, David; Guo, Xiuqing; Taylor, Kent D; Manson, JoAnn E; Franceschini, Nora; Pollard, Katherine S; Mitchell, Braxton D; Loos, Ruth J F; Fornage, Myriam; Hou, Lifang; Psaty, Bruce M; Young, Kendra A; Regan, Elizabeth A; Freedman, Barry I; Vasan, Ramachandran S; Levy, Daniel; Mathias, Rasika A; Peyser, Patricia A; Raffield, Laura M; Kooperberg, Charles; Reiner, Alex P; Rotter, Jerome I; Jun, Goo; de Vries, Paul S; Assimes, Themistocles L

Genealogy based trait association with LOCATER boosts power at loci with allelic heterogeneity

利用LOCATER进行基于谱系的性状关联分析,可以提高具有等位基因异质性的位点的统计效力。

Wang, Xinxin; Christ, Ryan; Young, Erica; Kang, Chul Joo; Das, Indraniel; Belter, Edward A; Laakso, Markku; Aslett, Louis J M; Steinsaltz, David; Stitziel, Nathan O; Hall, Ira M

Enhancer-targeting CRISPR screens at coronary artery disease loci suggest shared mechanisms of disease risk

针对冠状动脉疾病基因位点的增强子靶向 CRISPR 筛选提示疾病风险存在共同机制。

Ramste, Markus; Weldy, Chad; Kundu, Soumya; Zhao, Quanyi; Li, Daniel; Brand, Kayla; Sharma, Disha; Ramste, Amanda; Jagoda, Evelyn; Ray, Judhajeet; Caceres, Roxanne Diaz; Galante, James; Gschwind, Andreas R; Lahtinen, Nuutti; Nguyen, Trieu; Amrute, Junedh M; Park, Chong Yong; Kim, Juyong Brian; Kaikkonen, Minna U; Stitziel, Nathan O; Steinmetz, Lars; Kundaje, Anshul; Engreitz, Jesse M; Quertermous, Thomas

Plasma SVEP1 Levels Predict Cardiovascular Events in Hypertrophic Cardiomyopathy Beyond Conventional Clinical Risk Models Including NT-proBNP

血浆SVEP1水平可预测肥厚型心肌病患者的心血管事件,其预测能力优于包括NT-proBNP在内的传统临床风险模型。

Osawa, Itsuki; Akita, Keitaro; Hasegawa, Kohei; Fifer, Michael A; Tower-Rader, Albree; Reilly, Muredach P; Maurer, Mathew S; Stitziel, Nathan O; Javaheri, Ali; Shimada, Yuichi J

Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.

对多代家系进行全基因组测序,以扩展对遗传和表观遗传的研究。

Cechova Monika, Potapova Tamara A, Rechtsteiner Andreas, Hickey Glenn, Mari Rebecca Serra, Mastoras Mira, Menendez Julian, Poláková Nikol, Hebbar Prajna, Ryabov Fedor, Loucks Hailey, Groot Aljona, Pavlík Tomáš, Asri Mobin, Dong Shihua, Yan Stephanie M, Lucas Julian K, Solar Steven J, Borchers Matthew, Mattingly Mark, McKinney Sean, Krátká Marie, Mikhailova Catherine, Hanák Ondřej, Saha Sohinee Tiffany, Xu Emily, Antipov Dmitry, Koren Sergey, Eizenga Jordan M, McNulty Brandy, Gardner Joshua M V, Hillaker Todd, Violich Ivo, Markovic Christopher, Kruglyak Semyon, Levy Shawn, Wolf Trevor, Mitchell Matthew W, Scheinfeldt Laura, Cheng Haoyu, Alexandrov Ivan A, McCoy Rajiv C, Paten Benedict, Phillippy Adam M, Zook Justin M, Gerton Jennifer L, Fulton Robert S, Stitziel Nathan O, Wang Ting, Marschall Tobias, Greider Carol W, Miga Karen H