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

Forecasting mortality and cardiovascular risks through AI-estimated biological heart age from 12-Lead ECGs

利用人工智能技术,通过12导联心电图估算生物心脏年龄,从而预测死亡率和心血管风险

Mega, J L; Stitziel, N O; Smith, J G; Chasman, D I; Caulfield, M; Devlin, J J; Nordio, F; Hyde, C; Cannon, C P; Sacks, F; Poulter, N; Sever, P; Ridker, P M; Braunwald, E; Melander, O; Kathiresan, S; Sabatine, M S; Baek, Y; Park, H K; Lee, S C; Choi, W I; Kim, D H

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

NERINE reveals rare variant associations in gene networks across multiple phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease

NERINE 揭示了跨多个表型的基因网络中的罕见变异关联,并暗示 SNCA-PRL-LRRK2 子网络与帕金森病有关

Sumaiya Nazeen, Xinyuan Wang, Autumn Morrow, Ronya Strom, Elizabeth Ethier, Dylan Ritter, Alexander Henderson, Jalwa Afroz, Nathan O Stitziel, Rajat M Gupta, Kelvin Luk, Lorenz Studer, Vikram Khurana, Shamil R Sunyaev