Pulse Brain · Growing Health Evidence Index
Tier 4 — Narrative / commentaryPeer-reviewed

Genome-wide association testing beyond SNPs

Laura Harris, Ellen M. McDonagh, Xiaolei Zhang, Katherine A. Fawcett, Amy Foreman, Petr Daneck, Panagiotis I. Sergouniotis, Helen Parkinson, Francesco Mazzarotto, Michael Inouye, Edward J. Hollox, Ewan Birney, Tomas Fitzgerald

Nature Reviews Genetics · 2024

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Summary

This Nature Reviews Genetics article, authored by leading geneticists including Ewan Birney and Michael Inouye, surveys contemporary advances in genome-wide association testing that move beyond the traditional single nucleotide polymorphism (SNP) paradigm. The review appears to synthesise emerging methodologies—potentially including structural variants, indels, copy number variations, and polygenic scoring approaches—to improve genetic discovery and prediction. The work reflects the field's evolution towards more comprehensive genomic characterisation and is likely to be of interest to researchers seeking to understand current best practice in genetic association studies.

UK applicability

The methodological advances discussed may inform UK-based genomic research infrastructure and biobank analyses (such as UK Biobank studies). However, as a methods-focused review without direct agricultural or nutritional outcomes, the direct applicability to UK farming systems or food composition studies is limited unless combined with application to crop or livestock genomic selection programmes.

Key measures

Methodological frameworks for GWAS; genetic variant detection; genotype–phenotype association strength; statistical power of novel approaches

Outcomes reported

The paper reviews methodological advances in genome-wide association study (GWAS) approaches that extend beyond conventional SNP-based analyses. It examines how newer genetic variants and analytical frameworks can improve detection of genotype–phenotype associations.

Theme
Measurement & metrics
Subject
Measurement methods & nutrient profiling
Study type
Narrative Review
Study design
Narrative review
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Laboratory / in vitro
DOI
10.1038/s41576-024-00778-y
Catalogue ID
SNmojad56o-xkbm9y

Topic tags

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