15 years of GWAS discovery: realizing the promise
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …
Here, we review how this experimental design has realized its promise by facilitating an …
Multimodal biomedical AI
The increasing availability of biomedical data from large biobanks, electronic health records,
medical imaging, wearable and ambient biosensors, and the lower cost of genome and …
medical imaging, wearable and ambient biosensors, and the lower cost of genome and …
A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …
onset—remains an important public health need. Prior studies have developed genome …
Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis
AK Schalkamp, KJ Peall, NA Harrison, C Sandor - Nature Medicine, 2023 - nature.com
Parkinson's disease is a progressive neurodegenerative movement disorder with a long
latent phase and currently no disease-modifying treatments. Reliable predictive biomarkers …
latent phase and currently no disease-modifying treatments. Reliable predictive biomarkers …
Genome-wide association studies
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …
across many genomes to find those statistically associated with a specific trait or disease …
Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
[HTML][HTML] SHIFTing artificial intelligence to be responsible in healthcare: A systematic review
H Siala, Y Wang - Social Science & Medicine, 2022 - Elsevier
A variety of ethical concerns about artificial intelligence (AI) implementation in healthcare
have emerged as AI becomes increasingly applicable and technologically advanced. The …
have emerged as AI becomes increasingly applicable and technologically advanced. The …
Addressing fairness in artificial intelligence for medical imaging
A plethora of work has shown that AI systems can systematically and unfairly be biased
against certain populations in multiple scenarios. The field of medical imaging, where AI …
against certain populations in multiple scenarios. The field of medical imaging, where AI …
Ethical machine learning in healthcare
The use of machine learning (ML) in healthcare raises numerous ethical concerns,
especially as models can amplify existing health inequities. Here, we outline ethical …
especially as models can amplify existing health inequities. Here, we outline ethical …