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

Genome-wide association testing beyond SNPs

超越SNP的全基因组关联检测

Harris, Laura; McDonagh, Ellen M; Zhang, Xiaolei; Fawcett, Katherine; Foreman, Amy; Daneck, Petr; Sergouniotis, Panagiotis I; Parkinson, Helen; Mazzarotto, Francesco; Inouye, Michael; Hollox, Edward J; Birney, Ewan; Fitzgerald, Tomas

Natural genetic variation quantitatively regulates heart rate and dimension

自然遗传变异定量地调节心率和尺寸

Gierten, Jakob; Welz, Bettina; Fitzgerald, Tomas; Thumberger, Thomas; Agarwal, Rashi; Hummel, Oliver; Leger, Adrien; Weber, Philipp; Naruse, Kiyoshi; Hassel, David; Hübner, Norbert; Birney, Ewan; Wittbrodt, Joachim

Pigmentation and Retinal Pigment Epithelium Thickness: A Study of the Phenotypic and Genotypic Relationships Between Ocular and Extraocular Pigmented Tissues

色素沉着和视网膜色素上皮厚度:眼部和眼外色素组织表型和基因型关系的研究

Julian, Thomas H; Fitzgerald, Tomas; Birney, Ewan; Sergouniotis, Panagiotis I

Measurement and classification of bold-shy behaviours in medaka fish

青鳉鱼大胆-胆怯行为的测量与分类

Pierotti, Saul; Brettell, Ian; Fitzgerald, Tomas; Herder, Cathrin; Aadepu, Narendar; Pylatiuk, Christian; Wittbrodt, Joachim; Birney, Ewan; Loosli, Felix

Ophthalmic imaging as a measure of cardiovascular and neurological health: a multi-omic analysis of deep-learning derived phenotypes

眼科成像作为心血管和神经系统健康的衡量指标:基于深度学习衍生表型的多组学分析

Julian, Thomas H; Dou, Haoran; Duan, Jinming; Huang, Jinghan; Yoo, Esther; Green, David J; Strange, Andrew; Alhathli, Elham; Sperrin, Matthew; Keane, Pearse A; Chew, Emily Y; Keavney, Bernard; Fitzgerald, Tomas W; Cooper-Knock, Johnathan; Birney, Ewan; Frangi, Alejandro F; Sergouniotis, Panagiotis I

Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration

遗传学视角下的黄斑形态及其与色素沉着和年龄相关性黄斑变性的关系

Green, David J; Romero-Bascones, David; Julian, Thomas H; Torchia, Sofia; Joisher, Heer N V; Ayala, Unai; Barrenechea, Maitane; Self, Jay E; Black, Graeme C; Fitzgerald, Tomas; Birney, Ewan; Cepko, Constance L; Carroll, Joseph; Sergouniotis, Panagiotis I

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism

TYR 和 OCA2 基因的遗传变异同时出现会使个体易患白化病。

Green, David J; Michaud, Vincent; Lasseaux, Eulalie; Plaisant, Claudio; Fitzgerald, Tomas; Birney, Ewan; Black, Graeme C; Arveiler, Benoît; Sergouniotis, Panagiotis I

FEHAT: efficient, large scale and automated heartbeat detection in Medaka fish embryos

FEHAT:高效、大规模、自动化的青鳉鱼胚胎心跳检测

Ferreira, Marcio Soares; Stricker, Sebastian; Fitzgerald, Tomas; Monahan, Jack; Defranoux, Fanny; Watson, Philip; Welz, Bettina; Hammouda, Omar; Wittbrodt, Joachim; Birney, Ewan

Detection and characterization of copy-number variants from exome sequencing in the DDD study

在 DDD 研究中,通过外显子组测序检测和表征拷贝数变异

Danecek, Petr; Gardner, Eugene J; Fitzgerald, Tomas W; Gallone, Giuseppe; Kaplanis, Joanna; Eberhardt, Ruth Y; Wright, Caroline F; Firth, Helen V; Hurles, Matthew E

Autoencoder-based phenotyping of ophthalmic images highlights genetic loci influencing retinal morphology and provides informative biomarkers

基于自编码器的眼科图像表型分析突显了影响视网膜形态的基因位点,并提供了信息丰富的生物标志物。

Sergouniotis, Panagiotis I; Diakite, Adam; Gaurav, Kumar; Birney, Ewan; Fitzgerald, Tomas