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Life Sciences · Biochemistry, Genetics and Molecular Biology

Genetic Mapping and Diversity in Plants and Animals
Research Guide

What is Genetic Mapping and Diversity in Plants and Animals?

Genetic mapping and diversity in plants and animals is the study of how genetic variants are distributed within and between populations and how those variants are linked to phenotypic traits, using linkage analysis, association mapping, and population-genetic inference to quantify inheritance and variation.

The literature cluster on genetic mapping and diversity in plants and animals comprises 280,616 works focused on genetic architecture of quantitative traits, QTL mapping, genome-wide association studies, domestication, heterosis, and marker-assisted selection in crops and livestock.

Topic Hierarchy

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graph TD D["Life Sciences"] F["Biochemistry, Genetics and Molecular Biology"] S["Genetics"] T["Genetic Mapping and Diversity in Plants and Animals"] D --> F F --> S S --> T style T fill:#DC5238,stroke:#c4452e,stroke-width:2px
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280.6K
Papers
N/A
5yr Growth
1.6M
Total Citations

Research Sub-Topics

Why It Matters

Genetic mapping and diversity analyses directly support breeding, conservation, and genome-resource building by identifying trait-associated loci, characterizing population structure, and prioritizing genetic variation for selection. In practical association-mapping workflows, "PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses" (2007) is used to run whole-genome association and population-based linkage analyses at scale, while "Haploview: analysis and visualization of LD and haplotype maps" (2004) supports interpreting linkage disequilibrium (LD) and haplotype blocks that affect mapping resolution. For population structure and diversity inference that can prevent false positives in GWAS and clarify domestication or admixture histories, Evanno et al. (2005) in "Detecting the number of clusters of individuals using the software structure: a simulation study" formalized a simulation-based approach to selecting the number of genetic clusters, and Excoffier and Lischer (2010) in "Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows" provided a widely used toolkit for population-genetic summary statistics and analyses. Neutrality tests such as Tajima (1989) in "Statistical method for testing the neutral mutation hypothesis by DNA polymorphism." are routinely used to flag loci or genomic regions whose diversity patterns deviate from neutral expectations—information that can guide interpretation of selection signals in domestication, breeding, or conservation contexts.

Reading Guide

Where to Start

Start with "Introduction to Quantitative Genetics." (1982) because it provides the conceptual foundation (population genetic constitution, allele-frequency change, and small-population behavior) needed to interpret both mapping results and diversity statistics.

Key Papers Explained

Edwards and Falconer (1982) in "Introduction to Quantitative Genetics." supply the theoretical basis for how allele frequencies and population processes shape trait variance and genetic diversity. Tajima (1989) in "Statistical method for testing the neutral mutation hypothesis by DNA polymorphism." adds a formal test for whether observed DNA polymorphism patterns match neutral expectations, which is commonly used to interpret diversity signals. Evanno et al. (2005) in "Detecting the number of clusters of individuals using the software structure: a simulation study" addresses how to infer population structure, a key prerequisite for valid diversity inference and association mapping. Purcell et al. (2007) in "PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses" operationalizes association and linkage analyses for genome-wide genotype data, while Barrett et al. (2004) in "Haploview: analysis and visualization of LD and haplotype maps" supports interpreting LD and haplotype patterns that condition mapping resolution and signal localization.

Paper Timeline

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graph LR P0["Introduction to Quantitative Gen...
1982 · 21.8K cites"] P1["GENEPOP Version 1.2 : Populatio...
1995 · 15.5K cites"] P2["Cluster analysis and display of ...
1998 · 16.3K cites"] P3["Detecting the number of clusters...
2005 · 21.5K cites"] P4["PLINK: A Tool Set for Whole-Geno...
2007 · 34.6K cites"] P5["Arlequin suite ver 3.5: a new se...
2010 · 16.2K cites"] P6["ggplot2: Elegant Graphics for Da...
2011 · 14.7K cites"] P0 --> P1 P1 --> P2 P2 --> P3 P3 --> P4 P4 --> P5 P5 --> P6 style P4 fill:#DC5238,stroke:#c4452e,stroke-width:2px
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Most-cited paper highlighted in red. Papers ordered chronologically.

Advanced Directions

A current frontier is scaling genetic mapping and diversity inference to much larger genome resources and more complex representations of variation (e.g., haplotypes and LD structure) while maintaining rigorous controls for structure and neutrality assumptions. In practice, this means combining structure inference approaches aligned with Evanno et al. (2005) and diversity/summary-statistic pipelines aligned with Excoffier and Lischer (2010), then integrating association workflows aligned with Purcell et al. (2007) and LD/haplotype interpretation aligned with Barrett et al. (2004).

Papers at a Glance

# Paper Year Venue Citations Open Access
1 PLINK: A Tool Set for Whole-Genome Association and Population-... 2007 The American Journal o... 34.6K
2 Introduction to Quantitative Genetics. 1982 Biometrics 21.8K
3 Detecting the number of clusters of individuals using the soft... 2005 Molecular Ecology 21.5K
4 Cluster analysis and display of genome-wide expression patterns 1998 Proceedings of the Nat... 16.3K
5 Arlequin suite ver 3.5: a new series of programs to perform po... 2010 Molecular Ecology Reso... 16.2K
6 GENEPOP (Version 1.2): Population Genetics Software for Exact ... 1995 Journal of Heredity 15.5K
7 ggplot2: Elegant Graphics for Data Analysis 2011 Journal of the Royal S... 14.7K
8 Evolutionary trees from DNA sequences: A maximum likelihood ap... 1981 Journal of Molecular E... 14.6K
9 Haploview: analysis and visualization of LD and haplotype maps 2004 Bioinformatics 14.5K
10 Statistical method for testing the neutral mutation hypothesis... 1989 Genetics 13.9K

In the News

Code & Tools

Recent Preprints

Latest Developments

Recent developments in genetic mapping and diversity research in plants and animals include large-scale genome sequencing projects, such as the Earth BioGenome Project aiming to sequence over 1.67 million species' genomes, which could lead to new medicines and agricultural improvements (science.org, published November 2024; asu.edu, March 2025). Additionally, advances in agricultural genetics, including gene editing techniques like CRISPR, are transforming crop and livestock breeding to enhance resilience and productivity (farmonaut.com, 2026). Significant efforts are also underway to develop pangenomes for crops such as barley, rice, and wheat, revealing structural variations and allelic diversity that aid adaptation and breeding strategies (nature.com, November 2024; nature.com, April 2025; nature.com, November 2024). These initiatives collectively advance understanding of genetic diversity and structural variation, supporting conservation, crop improvement, and biomedical research (science.org, November 2024).

Frequently Asked Questions

What is the difference between linkage mapping and genome-wide association studies (GWAS) in genetic mapping?

Linkage mapping uses recombination in pedigrees or experimental crosses to localize loci affecting traits, whereas GWAS uses historical recombination in populations to associate genome-wide markers with phenotypes. "PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses" (2007) explicitly supports both population-based linkage analyses and whole-genome association analyses in a single tool framework.

How do researchers account for population structure when analyzing genetic diversity or performing GWAS?

Population structure is commonly inferred by clustering individuals into genetically homogeneous groups and then using that structure in downstream analyses to reduce confounding. Evanno et al. (2005) in "Detecting the number of clusters of individuals using the software structure: a simulation study" evaluated how to detect the true number of clusters under a Bayesian clustering model implemented in STRUCTURE.

Which software is commonly used to compute population-genetic summary statistics from genetic data?

"Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows" (2010) provides programs for population genetics analyses and summary statistics across platforms. Raymond and Rousset (1995) in "GENEPOP (Version 1.2): Population Genetics Software for Exact Tests and Ecumenicism" provides exact tests and related population-genetic analyses that are widely used for genotype data.

How is linkage disequilibrium (LD) and haplotype structure used in genetic mapping?

LD and haplotype structure determine mapping resolution and help interpret association signals by showing whether nearby variants are correlated and inherited together. "Haploview: analysis and visualization of LD and haplotype maps" (2004) provides analysis and visualization routines that make LD blocks and haplotype patterns interpretable for association studies.

Why do neutrality tests matter for interpreting genetic diversity patterns in domestication or breeding populations?

Neutrality tests help distinguish diversity patterns expected under neutral evolution from those likely shaped by selection or demographic events. Tajima (1989) in "Statistical method for testing the neutral mutation hypothesis by DNA polymorphism." derived a statistical test based on DNA polymorphism summaries to evaluate departures from the neutral mutation hypothesis.

Which core theoretical framework underpins quantitative trait analysis in genetic mapping studies?

Quantitative genetics provides the population-genetic and statistical foundation for modeling how many loci with small effects contribute to trait variation. Edwards and Falconer (1982) in "Introduction to Quantitative Genetics." organized key principles including Hardy–Weinberg equilibrium, forces changing allele frequencies, and the behavior of small populations, which are central to interpreting mapping and diversity results.

Open Research Questions

  • ? How can LD and haplotype-block structure, as operationalized in "Haploview: analysis and visualization of LD and haplotype maps" (2004), be incorporated into association models (e.g., those implemented in "PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses" (2007)) to improve fine-mapping resolution without inflating false positives?
  • ? Which departures from the neutral mutation hypothesis detected using Tajima (1989) in "Statistical method for testing the neutral mutation hypothesis by DNA polymorphism." can be robustly attributed to selection rather than demography when population structure is inferred as in Evanno et al. (2005) in "Detecting the number of clusters of individuals using the software structure: a simulation study"?
  • ? How should clustering choices (the inferred number of clusters) from Evanno et al. (2005) propagate uncertainty into downstream estimates of diversity and differentiation computed using Excoffier and Lischer (2010) in "Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows"?
  • ? How can quantitative-genetic assumptions summarized in Edwards and Falconer (1982) in "Introduction to Quantitative Genetics." be reconciled with genome-wide association signals produced by "PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses" (2007) when traits are influenced by many loci and population structure is present?

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