Publications by authors named "Alex T Williams"
Article Synopsis
- Chronic sputum production negatively affects quality of life and this study aims to identify genetic factors linked to this condition through a genome-wide association study (GWAS) involving over 9,700 cases.
- The GWAS found six significant genetic signals related to chronic sputum production, particularly pinpointing associations with the human leukocyte antigen (HLA) locus and mucin loci, which are also connected to respiratory conditions like asthma.
- Further analysis revealed that these genetic signals are linked to various health conditions and suggest that mucin fucosylation may play a key role in chronic sputum production.
Background: It is postulated that lack of hypoxic ventilatory response is a predictor for AMS. End-tidal carbon dioxide (ETCO) is an accurate, noninvasive surrogate measure of ventilation.
Objectives: We sought to determine if changes in baseline ETCO predicts the development of AMS.
Article Synopsis
- DeepPheWAS is an R package designed for phenome-wide association studies, enabling the creation of composite phenotypes using data from primary care and disease progression.
- It offers tools for analyzing genetic associations, allowing for various models and optional sex-stratified analysis, making it versatile for researchers.
- The package can be accessed for free on GitHub and has supplementary information available online at Bioinformatics.