Polygenic scores: prediction versus explanation

R Plomin, S Von Stumm - Molecular psychiatry, 2022 - nature.com
During the past decade, polygenic scores have become a fast-growing area of research in
the behavioural sciences. The ability to directly assess people's genetic propensities has …

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 …

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

O Weissbrod, M Kanai, H Shi, S Gazal, WJ Peyrot… - Nature Genetics, 2022 - nature.com
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …

Improving polygenic prediction in ancestrally diverse populations

Y Ruan, YF Lin, YCA Feng, CY Chen, M Lam, Z Guo… - Nature …, 2022 - nature.com
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …

Principal component analyses (PCA)-based findings in population genetic studies are highly biased and must be reevaluated

E Elhaik - Scientific Reports, 2022 - nature.com
Abstract Principal Component Analysis (PCA) is a multivariate analysis that reduces the
complexity of datasets while preserving data covariance. The outcome can be visualized on …

Public human microbiome data are dominated by highly developed countries

RJ Abdill, EM Adamowicz, R Blekhman - PLoS biology, 2022 - journals.plos.org
The importance of sampling from globally representative populations has been well
established in human genomics. In human microbiome research, however, we lack a full …

Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function

JS Hawe, R Wilson, KT Schmid, L Zhou… - Nature …, 2022 - nature.com
We determined the relationships between DNA sequence variation and DNA methylation
using blood samples from 3,799 Europeans and 3,195 South Asians. We identify …

Increasing diversity in genomics requires investment in equitable partnerships and capacity building

AR Martin, RE Stroud, T Abebe, D Akena… - Nature …, 2022 - nature.com
Calls for diversity in genomics have motivated new global research collaborations across
institutions with highly imbalanced resources. We describe practical lessons we have …

[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 …

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 …