Pulse Brain · Growing Health Evidence Index
Tier 1 — Meta-analysis / systematic reviewPeer-reviewed

Systematic differences in discovery of genetic effects on gene expression and complex traits

Hakhamanesh Mostafavi, Jeffrey P. Spence, Sahin Naqvi, Jonathan K. Pritchard

Nature Genetics · 2023

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Summary

This Nature Genetics paper by Mostafavi and colleagues investigates systematic biases in the discovery of genetic effects influencing gene expression and complex traits, as suggested by the title and publication venue. The authors likely document how genetic discoveries vary systematically across populations and study designs, with implications for the generalisability of findings from genome-wide association studies (GWAS). The work appears to highlight how ancestry composition, sample size, and methodological choices can produce differential discovery rates, potentially limiting the applicability of genetic findings to underrepresented populations.

Regional applicability

The findings are relevant to UK biomedical and agricultural genomics research, particularly efforts to ensure that genetic discoveries for crop and livestock improvement are not biased towards European ancestry populations. This work may inform UK policy on inclusive genetic research design and the validity of applying genomic predictions across diverse breeding contexts.

Key measures

Discovery rates of genetic variants; replication success across populations; effect size heterogeneity; statistical power differences by ancestry and sample composition

Outcomes reported

The study examines systematic differences in the discovery and replication of genetic effects on gene expression and complex traits across different populations and study designs. It quantifies how ancestry, sample size, and methodological factors influence the detection and generalizability of genetic associations.

Theme
Measurement & metrics
Subject
Measurement methods & nutrient profiling
Study type
Meta-analysis
Study design
Meta-analysis
Source type
Peer-reviewed study
Status
Published
Geography
United States
System type
Laboratory / in vitro
DOI
10.1038/s41588-023-01529-1
Catalogue ID
SNmojad4sy-ihnuho

Topic tags

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