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

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes

对英国生物银行470,727个基因组中的拷贝数变异进行全表型组分析

Zou, Xueqing Zoe; Hu, Fengyuan; Lou, Haiyi; Burren, Oliver S; Li, Xiaoyin; Megy, Karyn; Wheeler, Eleanor; Wu, Qiang; Atanur, Santosh S; Karpinski, Marcin; Loesch, Douglas; Fairhurst-Hunter, Zammy; Deevi, Sri V V; Oerton, Erin; Wen, Sean; Jiang, Xiao; Salvoro, Cecilia; Mitchell, Jonathan; Nag, Abhishek; Hollis, Ben; O'Neill, Amanda; Harrow, Jen; MacArthur, Stewart; Wasilewski, Sebastian; O'Dell, Sean; Tian, Lifeng; Smith, Katherine R; Del Angel, Guillermo; Fabre, Margarete; Dhindsa, Ryan S; Wang, Quanli; Petrovski, Slavé; Carss, Keren

Author Correction: Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes

作者更正:对英国生物银行470,727个基因组中的拷贝数变异进行全表型分析

Zou, Xueqing Zoe; Hu, Fengyuan; Lou, Haiyi; Burren, Oliver S; Li, Xiaoyin; Megy, Karyn; Wheeler, Eleanor; Wu, Qiang; Atanur, Santosh S; Karpinski, Marcin; Loesch, Douglas; Fairhurst-Hunter, Zammy; Deevi, Sri V V; Oerton, Erin; Wen, Sean; Jiang, Xiao; Salvoro, Cecilia; Mitchell, Jonathan; Nag, Abhishek; Hollis, Ben; O'Neill, Amanda; Harrow, Jen; MacArthur, Stewart; Wasilewski, Sebastian; O'Dell, Sean; Tian, Lifeng; Smith, Katherine R; Del Angel, Guillermo; Fabre, Margarete; Dhindsa, Ryan S; Wang, Quanli; Petrovski, Slavé; Carss, Keren

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

GCAT|Panel,基于高覆盖度全基因组测序构建的伊比利亚人群综合结构变异单倍型图谱

Valls-Margarit, Jordi; Galván-Femenía, Iván; Matías-Sánchez, Daniel; Blay, Natalia; Puiggròs, Montserrat; Carreras, Anna; Salvoro, Cecilia; Cortés, Beatriz; Amela, Ramon; Farre, Xavier; Lerga-Jaso, Jon; Puig, Marta; Sánchez-Herrero, Jose Francisco; Moreno, Victor; Perucho, Manuel; Sumoy, Lauro; Armengol, Lluís; Delaneau, Olivier; Cáceres, Mario; de Cid, Rafael; Torrents, David

The impact of non-additive genetic associations on age-related complex diseases

非加性遗传关联对年龄相关复杂疾病的影响

Guindo-Martínez, Marta; Amela, Ramon; Bonàs-Guarch, Silvia; Puiggròs, Montserrat; Salvoro, Cecilia; Miguel-Escalada, Irene; Carey, Caitlin E; Cole, Joanne B; Rüeger, Sina; Atkinson, Elizabeth; Leong, Aaron; Sanchez, Friman; Ramon-Cortes, Cristian; Ejarque, Jorge; Palmer, Duncan S; Kurki, Mitja; Aragam, Krishna; Florez, Jose C; Badia, Rosa M; Mercader, Josep M; Torrents, David

Internal validation and improvement of mitochondrial genome sequencing using the Precision ID mtDNA Whole Genome Panel

使用 Precision ID mtDNA Whole Genome Panel 对线粒体基因组测序进行内部验证和改进

Christian Faccinetto #, Daniele Sabbatini #, Patrizia Serventi, Martina Rigato, Cecilia Salvoro, Gianluca Casamassima, Gianluca Margiotta, Sara De Fanti, Stefania Sarno, Nicola Staiti, Donata Luiselli, Alberto Marino, Giovanni Vazza

Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3

昼夜偏好、情绪和对晨光的反应与人类时钟基因 PER3 的多态性有关

M Turco, A Biscontin, M Corrias, L Caccin, M Bano, F Chiaromanni, M Salamanca, D Mattei, C Salvoro, G Mazzotta, C De Pittà, B Middleton, D J Skene, S Montagnese, R Costa