Algorithmic fairness in artificial intelligence for medicine and healthcare

RJ Chen, JJ Wang, DFK Williamson, TY Chen… - Nature biomedical …, 2023 - nature.com
In healthcare, the development and deployment of insufficiently fair systems of artificial
intelligence (AI) can undermine the delivery of equitable care. Assessments of AI models …

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 …

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

E Sollis, A Mosaku, A Abid, A Buniello… - Nucleic acids …, 2023 - academic.oup.com
Abstract The NHGRI-EBI GWAS Catalog (www. ebi. ac. uk/gwas) is a FAIR knowledgebase
providing detailed, structured, standardised and interoperable genome-wide association …

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 …

Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

A Okbay, Y Wu, N Wang, H Jayashankar, M Bennett… - Nature …, 2022 - nature.com
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …

Demographic bias in misdiagnosis by computational pathology models

A Vaidya, RJ Chen, DFK Williamson, AH Song… - Nature Medicine, 2024 - nature.com
Despite increasing numbers of regulatory approvals, deep learning-based computational
pathology systems often overlook the impact of demographic factors on performance …

Mendelian randomization

E Sanderson, MM Glymour, MV Holmes… - Nature reviews …, 2022 - nature.com
Mendelian randomization (MR) is a term that applies to the use of genetic variation to
address causal questions about how modifiable exposures influence different outcomes …

Large-scale genome-wide association study of coronary artery disease in genetically diverse populations

C Tcheandjieu, X Zhu, AT Hilliard, SL Clarke… - Nature medicine, 2022 - nature.com
We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …

Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association

JW O'Sullivan, S Raghavan, C Marquez-Luna… - Circulation, 2022 - ahajournals.org
Cardiovascular disease is the leading contributor to years lost due to disability or premature
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …