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Algorithmic fairness in artificial intelligence for medicine and healthcare
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 …
intelligence (AI) can undermine the delivery of equitable care. Assessments of AI models …
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 …
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 …
providing detailed, structured, standardised and interoperable genome-wide association …
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 …
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
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 …
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
Demographic bias in misdiagnosis by computational pathology models
Despite increasing numbers of regulatory approvals, deep learning-based computational
pathology systems often overlook the impact of demographic factors on performance …
pathology systems often overlook the impact of demographic factors on performance …
Mendelian randomization
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 …
address causal questions about how modifiable exposures influence different outcomes …
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations
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 …
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
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 …
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …