Polygenic scoring accuracy varies across the genetic ancestry continuum
Polygenic scores (PGSs) have limited portability across different groupings 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 …
Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder
Biobanks often contain several phenotypes relevant to diseases such as major depressive
disorder (MDD), with partly distinct genetic architectures. Researchers face complex …
disorder (MDD), with partly distinct genetic architectures. Researchers face complex …
Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region
An individual's disease risk is affected by the populations that they belong to, due to shared
genetics and environmental factors. The study of fine-scale populations in clinical care is …
genetics and environmental factors. The study of fine-scale populations in clinical care is …
Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations
BL Maldonado, DG Piqué, RC Kaplan, KG Claw… - Journal of Community …, 2023 - Springer
Genome-wide association studies (GWAS) have allowed the identification of disease-
associated variants, which can be leveraged to build polygenic scores (PGSs). Even though …
associated variants, which can be leveraged to build polygenic scores (PGSs). Even though …
Leveraging fine-scale population structures for precision healthcare
M Kanai - Nature Medicine, 2023 - nature.com
Leveraging fine-scale population structures for precision healthcare | Nature Medicine Skip to
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main content Thank you for visiting nature.com. You are using a browser version with limited …
Interpreting SNP heritability in admixed populations
SNP heritability hsnp2 is defined as the proportion of phenotypic variance explained by
genotyped SNPs and is believed to be a lower bound of heritability (h2), being equal to it if …
genotyped SNPs and is believed to be a lower bound of heritability (h2), being equal to it if …
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity
RD Chow, KL Nathanson, RB Parikh - NPJ Precision Oncology, 2024 - nature.com
Deep learning models for predicting variant pathogenicity have not been thoroughly
evaluated on real-world clinical phenotypes. Here, we apply state-of-the-art pathogenicity …
evaluated on real-world clinical phenotypes. Here, we apply state-of-the-art pathogenicity …
[HTML][HTML] Decoding Genetics, Ancestry, and Geospatial Context for Precision Health
Abstract Mass General Brigham, an integrated healthcare system based in the Greater
Boston area of Massachusetts, annually serves 1.5 million patients. We established the …
Boston area of Massachusetts, annually serves 1.5 million patients. We established the …
Phenotype integration improves power and preserves specificity in biobank-based genetic studies of MDD
Biobanks often contain several phenotypes relevant to a given disorder, and researchers
face complex tradeoffs between shallow phenotypes (high sample size, low specificity and …
face complex tradeoffs between shallow phenotypes (high sample size, low specificity and …
Population Performance and Individual Agreement of Coronary Artery Disease Polygenic Risk Scores
Abstract Importance Polygenic risk scores (PRSs) for coronary artery disease (CAD) are a
growing clinical and commercial reality. Whether existing scores provide similar individual …
growing clinical and commercial reality. Whether existing scores provide similar individual …