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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 …
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 …
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 …
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 …
A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
Polygenic scoring accuracy varies across the genetic ancestry continuum
Polygenic scores (PGSs) have limited portability across different grou**s of individuals (for
example, by genetic ancestries and/or social determinants of health), preventing their …
example, by genetic ancestries and/or social determinants of health), preventing their …
Mendelian randomization: concepts and scope
RC Richmond, GD Smith - Cold Spring …, 2022 - perspectivesinmedicine.cshlp.org
Mendelian randomization (MR) is a method of studying the causal effects of modifiable
exposures (ie, potential risk factors) on health, social, and economic outcomes using genetic …
exposures (ie, potential risk factors) on health, social, and economic outcomes using genetic …
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Polygenic risk scores (PRSs) have improved in predictive performance, but several
challenges remain to be addressed before PRSs can be implemented in the clinic, including …
challenges remain to be addressed before PRSs can be implemented in the clinic, including …
Underspecification presents challenges for credibility in modern machine learning
Machine learning (ML) systems often exhibit unexpectedly poor behavior when they are
deployed in real-world domains. We identify underspecification in ML pipelines as a key …
deployed in real-world domains. We identify underspecification in ML pipelines as a key …
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …