[PDF][PDF] Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program

AT Khan, SM Gogarten, CP McHugh, AM Stilp, T Sofer… - Cell genomics, 2022 - cell.com
How race, ethnicity, and ancestry are used in genomic research has wide-ranging
implications for how research is translated into clinical care and incorporated into public …

[HTML][HTML] Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse …

CCY Chung, SPY Hue, NYT Ng, PHL Doong… - Genetics in …, 2023 - Elsevier
Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

Integrative omics of schizophrenia: from genetic determinants to clinical classification and risk prediction

F Guan, T Ni, W Zhu, LK Williams, LB Cui, M Li… - Molecular …, 2022 - nature.com
Schizophrenia (SCZ) is a debilitating neuropsychiatric disorder with high heritability and
complex inheritance. In the past decade, successful identification of numerous susceptibility …

Barriers to clinical adoption of pharmacogenomic testing in psychiatry: a critical analysis

CR Virelli, AG Mohiuddin, JL Kennedy - Translational psychiatry, 2021 - nature.com
Pharmacogenomics (PGx) is the study of genetic influences on an individual's response to
medications. Improvements in the quality and quantity of PGx research over the past two …

Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder

A Dahl, M Thompson, U An, M Krebs, V Appadurai… - Nature Genetics, 2023 - nature.com
Biobanks often contain several phenotypes relevant to diseases such as major depressive
disorder (MDD), with partly distinct genetic architectures. Researchers face complex …

Whole-genome sequencing analysis of human metabolome in multi-ethnic populations

EV Feofanova, MR Brown, T Alkis, AM Manuel… - Nature …, 2023 - nature.com
Circulating metabolite levels may reflect the state of the human organism in health and
disease, however, the genetic architecture of metabolites is not fully understood. We have …

Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies

P Salehi Nowbandegani, AW Wohns, JL Ballard… - Nature Genetics, 2023 - nature.com
Linkage disequilibrium (LD) is the correlation among nearby genetic variants. In genetic
association studies, LD is often modeled using large correlation matrices, but this approach …

Racialising genetic risk: assumptions, realities, and recommendations

JP Cerdeña, V Grubbs, AL Non - The Lancet, 2022 - thelancet.com
Scientists and clinicians wield the immense power of defining reality and producing facts. 1
Although no person can truly claim objectivity, scholars enjoy the authority of expertise and …

[PDF][PDF] Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits

RA Patel, SA Musharoff, JP Spence, H Pimentel… - The American Journal of …, 2022 - cell.com
Despite the growing number of genome-wide association studies (GWASs), it remains
unclear to what extent gene-by-gene and gene-by-environment interactions influence …

[HTML][HTML] The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

A Abu-El-Haija, HV Reddi, H Wand, NC Rose… - Genetics in …, 2023 - Elsevier
Polygenic inheritance is a non-Mendelian form of inheritance in which the risk of a trait,
disorder, or disease results from the combined contribution of variants from multiple genes …