15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
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 …

Multimodal biomedical AI

JN Acosta, GJ Falcone, P Rajpurkar, EJ Topol - Nature Medicine, 2022 - nature.com
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 …

A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease

AP Patel, M Wang, Y Ruan, S Koyama, SL Clarke… - Nature Medicine, 2023 - nature.com
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 …

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 …

Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
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 …

Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
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 …

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
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 …

[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 …

Addressing fairness in artificial intelligence for medical imaging

MA Ricci Lara, R Echeveste, E Ferrante - nature communications, 2022 - nature.com
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 …

Ethical machine learning in healthcare

IY Chen, E Pierson, S Rose, S Joshi… - Annual review of …, 2021 - annualreviews.org
The use of machine learning (ML) in healthcare raises numerous ethical concerns,
especially as models can amplify existing health inequities. Here, we outline ethical …