Natural genetic variation makes it possible to discover evolutionary changes that have been maintained in a population because they are advantageous. To understand genotype-phenotype relationships and to investigate trait architecture, the existence of both high-resolution genotypic and phenotypic data is necessary. Arabidopsis thaliana is a prime model for these purposes. This herb naturally occurs across much of the Eurasian continent and North America. Thus, it is exposed to a wide range of environmental factors and has been subject to natural selection under distinct conditions. Full genome sequencing data for more than 1000 different natural inbred lines are available, and this has encouraged the distributed generation of many types of phenotypic data. To leverage these data for meta analyses, AraPheno (https://arapheno.1001genomes.org) provide a central repository of population-scale phenotypes for A. thaliana inbred lines. AraPheno includes various features to easily access, download and visualize the phenotypic data. This will facilitate a comparative analysis of the many different types of phenotypic data, which is the base to further enhance our understanding of the genotype-phenotype map.
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http://dx.doi.org/10.1093/nar/gkw986 | DOI Listing |
Comput Struct Biotechnol J
January 2025
Ph.D. Program in Computer Science, The Graduate Center, The City University of New York, New York, NY, USA.
Despite the wealth of single-cell multi-omics data, it remains challenging to predict the consequences of novel genetic and chemical perturbations in the human body. It requires knowledge of molecular interactions at all biological levels, encompassing disease models and humans. Current machine learning methods primarily establish statistical correlations between genotypes and phenotypes but struggle to identify physiologically significant causal factors, limiting their predictive power.
View Article and Find Full Text PDFTob Induc Dis
January 2025
Department of Orthopedics, Tianjin Medical University General Hospital, Tianjin, People's Republic of China.
Introduction: It is currently uncertain whether smoking is a risk factor for carpal tunnel syndrome (CTS). This study aims to elucidate association between smoking and CTS using Mendelian randomization (MR) analysis.
Methods: This study was a secondary analysis of publicly available GWAS data, using four smoking phenotypes (smoking initiation, smoking status, lifetime smoking, and never smoking) as exposures, and two CTS datasets (discovery and validation sets) as outcomes for MR analysis.
Front Med (Lausanne)
January 2025
The Biomedical Research Institute of Malaga and Platform in Nanomedicine (IBIMA BIONAND Platform), Málaga, Spain.
Background: Difficult-to-treat rheumatoid arthritis (D2T RA) refers to a subset of patients who fail to achieve adequate disease control after the use of two or more biological or targeted synthetic disease-modifying antirheumatic drugs (b/tsDMARDs) with different mechanisms of action, while maintaining active inflammatory disease. This presents a therapeutic challenge and highlights the need to explore contributing factors such as the potential role of the gut microbiota. Therefore, the aim of this study was to analyze the gut microbiota and inflammation in patients with D2T RA in comparison to patients with easy-to-treat RA (E2T RA).
View Article and Find Full Text PDFMediterr J Rheumatol
December 2024
Internal Medicine and Rheumatology Unit, University Hospital of Parma, Parma, Italy.
Background: Psoriatic arthritis (PsA) phenotypes show different responses to the many available drugs. For a tailored medicine, it is important to choose the most effective treatment according to patients' characteristics. Apremilast is recommended in PsA with moderate activity.
View Article and Find Full Text PDFBMJ Oncol
April 2024
Deparment of Hematology and Oncology, Emory University School of Medicine, Atlanta, Georgia, USA.
Objective: Immune checkpoint inhibitors (ICI) that block the programmed cell death 1 (PD-1) pathway have shown promise with limited benefit. We and others have shown in small patient cohorts that an early proliferative CD8 T-cell response in the blood may be predictive of clinical response. However, these studies lack detailed analyses and comparisons between monotherapy and combination therapies.
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