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

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk

全基因组关联分析揭示了自身免疫性甲状腺功能减退症的自身免疫和甲状腺特异性因素,以及与癌症风险的负相关关系。

Reeve, Mary Pat; Kanai, Masahiro; Graham, Daniel B; Karjalainen, Juha; Luo, Shuang; Kolosov, Nikita; Adams, Cameron; Ritari, Jarmo; Karczewski, Konrad J; Kiiskinen, Tuomo; Jiang, Yu; Fuller, Zachary; Mehtonen, Juha; Kurki, Mitja I; Khan, Zia; Partanen, Jukka; McCarthy, Mark I; Artomov, Mykyta; Palotie, Aarno; Tuomi, Tiinamaija; Pirinen, Matti; Kero, Jukka; Xavier, Ramnik J; Daly, Mark J; Ripatti, Samuli

Integrating 730,947 exome sequences with clinical literature improves gene discovery

将730,947个外显子组序列与临床文献整合,可提高基因发现率。

Guez, Jeremy; Goodrich, Julia K; Moldovan, Mikhail A; Chao, Katherine R; Kar, Prathitha; Panchal, Ruchit; Wilson, Michael W; Laricchia, Kristen M; Rohlicek, Greg; Biba, Dmitry; Marten, Daniel; He, Qin; Darnowsky, Philip W; Grant, Riley; Weisburd, Ben; Baxter, Samantha M; Nadeau, Joshua; Lu, Wenhan; Jahl, Steve; Parsa, Sophie; Lamane, Abdallah; DiTroia, Stephanie; Fu, Jack; Zhao, Xuefang; Alarmani, Elissa; Tolonen, Charlotte; Novod, Sam; Bryant, Sam; Stevens, Christine; Chapman, Sinéad B; Cusick, Caroline; Vittal, Christopher; Gauthier, Laura D; Goldstein, Jacqueline I; Goldstein, Daniel; King, Daniel; Poterba, Timothy; Tiao, Grace; Tranchero, Matteo; Lotter, William; MacArthur, Daniel G; Brand, Harrison; Seplyarskiy, Vladimir; Koch, Evan; Talkowski, Michael E; Solomonson, Matthew; Neale, Benjamin M; O'Donnell-Luria, Anne; Finucane, Hilary K; Sunyaev, Shamil R; Daly, Mark J; Rehm, Heidi L; Samocha, Kaitlin E; Karczewski, Konrad J

Haematological setpoints are a stable and patient-specific deep phenotype

血液学设定点是一种稳定且患者特异性的深层表型

Foy, Brody H; Petherbridge, Rachel; Roth, Maxwell T; Zhang, Cindy; De Souza, Daniel C; Mow, Christopher; Patel, Hasmukh R; Patel, Chhaya H; Ho, Samantha N; Lam, Evie; Powe, Camille E; Hasserjian, Robert P; Karczewski, Konrad J; Tozzo, Veronica; Higgins, John M

Widespread naturally variable human exons aid genetic interpretation

广泛存在的天然变异的人类外显子有助于基因解读

Jacobs, Hannah N; Gorissen, Bram L; Guez, Jeremy; Kanai, Masahiro; Gupta, Kavi; Finucane, Hilary K; Karczewski, Konrad J; Burge, Christopher B

Improved allele frequencies in gnomAD through local ancestry inference

通过局部祖源推断改进gnomAD中的等位基因频率

Kore, Pragati; Wilson, Michael W; Tiao, Grace; Chao, Katherine; Darnowsky, Philip W; Watts, Nicholas A; Mauer, Jessica Honorato; Baxter, Samantha M; Rehm, Heidi L; Daly, Mark J; Karczewski, Konrad J; Atkinson, Elizabeth G

The Promising Effect of Tocilizumab on Chronic Antibody-Mediated Rejection (cAMR) of Kidney Transplant

托珠单抗对肾移植慢性抗体介导排斥反应(cAMR)的良好疗效

Świątek, Łukasz; Miedziaszczyk, Miłosz; Lewandowski, Dominik; Robakowski, Filip; Tyburski, Piotr; Jakubowska, Marta; Karczewski, Marek; Idasiak-Piechocka, Ilona

The effect of the use of omeprazole versus famotidine on the kidney transplant function: a randomized controlled study

奥美拉唑与法莫替丁对肾移植功能的影响:一项随机对照研究

Miedziaszczyk, Miłosz; Karczewski, Marek; Idasiak-Piechocka, Ilona

Correction: Laser irradiation of human skin tissue after gold nanoparticles injection for thermal ablation processes - a combined experimental and numerical approach

更正:金纳米颗粒注射后激光照射人体皮肤组织进行热消融——实验与数值模拟相结合的方法

Cecotka, Marta; Radomski, Piotr; Ziółkowski, Paweł; Tymińska, Agata; Czerwiec, Katarzyna; Zieliński, Jacek; Dong, Yue; Rossner, Christian; Petronella, Francesca; Narajczyk, Magdalena; Karczewski, Jakub; De Sio, Luciano; Pikuła, Michał; Mikielewicz, Dariusz

Laser irradiation of human skin tissue after gold nanoparticles injection for thermal ablation processes - a combined experimental and numerical approach

金纳米颗粒注射后对人体皮肤组织进行激光照射以实现热消融——实验与数值模拟相结合的方法

Cecotka, Marta; Radomski, Piotr; Ziółkowski, Paweł; Tymińska, Agata; Czerwiec, Katarzyna; Zieliński, Jacek; Dong, Yue; Rossner, Christian; Petronella, Francesca; Narajczyk, Magdalena; Karczewski, Jakub; De Sio, Luciano; Pikuła, Michał; Mikielewicz, Dariusz

Analysis-ready VCF at Biobank scale using Zarr

使用 Zarr 生成生物样本库规模的分析就绪型 VCF 文件

Czech, Eric; Tyler, Will; White, Tom; Jeffery, Ben; Millar, Timothy R; Elsworth, Benjamin; Guez, Jérémy; Hancox, Jonny; Karczewski, Konrad J; Miles, Alistair; Tallman, Sam; Unneberg, Per; Wojdyla, Rafal; Zabad, Shadi; Hammerbacher, Jeff; Kelleher, Jerome