Genetics plays an increasingly important role in our understanding of Cultural Heritage. Genomic analysis in combination with archaeological material and historical evidence have been shown to be highly complementary fields of study, uncovering information that would not be possible if they were used in isolation. One of the most common uses of genomic studies is to identify admixture using three-population testing (f3), which can help to identify the migrations and movements of people all over the world. A negative, significant f3 implies that a target population contains some level of admixture between two source populations. The majority of studies currently use Single Nucleotide Polymorphism (SNP) loci to calculate these statistics. It has been shown previously in the literature that Transposable Element (TE) loci are also suitable for ancestry and admixture analyses at a continental scale. Using the Simons Genome Diversity Project (SGDP) and Human Genome Diversity Project (HGDP) datasets, this study seeks to test whether transposable elements can also be used at a finer, subcontinental scale to produce significant admixture signals. Comparing against an array of statistically significant SNP-derived f3-statistics published in the literature, this study found that many of these negative admixture signals were reproducible, supporting the idea that transposable elements can be used as a secondary dataset for admixture testing. However, the study also found a smaller subset of results with the opposite direction to the published results. These were looked at in greater detail to identify target alleles with notably higher/lower frequencies relative to source populations. This may warrant further study, as it raises the possibility for TE-derived f-statistics to be used as an initial screening tool to look for alleles that may be under the influence of selection in target populations.

Genetics plays an increasingly important role in our understanding of Cultural Heritage. Genomic analysis in combination with archaeological material and historical evidence have been shown to be highly complementary fields of study, uncovering information that would not be possible if they were used in isolation. One of the most common uses of genomic studies is to identify admixture using three-population testing (f3), which can help to identify the migrations and movements of people all over the world. A negative, significant f3 implies that a target population contains some level of admixture between two source populations. The majority of studies currently use Single Nucleotide Polymorphism (SNP) loci to calculate these statistics. It has been shown previously in the literature that Transposable Element (TE) loci are also suitable for ancestry and admixture analyses at a continental scale. Using the Simons Genome Diversity Project (SGDP) and Human Genome Diversity Project (HGDP) datasets, this study seeks to test whether transposable elements can also be used at a finer, subcontinental scale to produce significant admixture signals. Comparing against an array of statistically significant SNP-derived f3-statistics published in the literature, this study found that many of these negative admixture signals were reproducible, supporting the idea that transposable elements can be used as a secondary dataset for admixture testing. However, the study also found a smaller subset of results with the opposite direction to the published results. These were looked at in greater detail to identify target alleles with notably higher/lower frequencies relative to source populations. This may warrant further study, as it raises the possibility for TE-derived f-statistics to be used as an initial screening tool to look for alleles that may be under the influence of selection in target populations.

Studio della storia popolazionistica umana tramite l'analisi degli elementi trasponibili.

TITLEY, JOSHUA GEORGE
2025/2026

Abstract

Genetics plays an increasingly important role in our understanding of Cultural Heritage. Genomic analysis in combination with archaeological material and historical evidence have been shown to be highly complementary fields of study, uncovering information that would not be possible if they were used in isolation. One of the most common uses of genomic studies is to identify admixture using three-population testing (f3), which can help to identify the migrations and movements of people all over the world. A negative, significant f3 implies that a target population contains some level of admixture between two source populations. The majority of studies currently use Single Nucleotide Polymorphism (SNP) loci to calculate these statistics. It has been shown previously in the literature that Transposable Element (TE) loci are also suitable for ancestry and admixture analyses at a continental scale. Using the Simons Genome Diversity Project (SGDP) and Human Genome Diversity Project (HGDP) datasets, this study seeks to test whether transposable elements can also be used at a finer, subcontinental scale to produce significant admixture signals. Comparing against an array of statistically significant SNP-derived f3-statistics published in the literature, this study found that many of these negative admixture signals were reproducible, supporting the idea that transposable elements can be used as a secondary dataset for admixture testing. However, the study also found a smaller subset of results with the opposite direction to the published results. These were looked at in greater detail to identify target alleles with notably higher/lower frequencies relative to source populations. This may warrant further study, as it raises the possibility for TE-derived f-statistics to be used as an initial screening tool to look for alleles that may be under the influence of selection in target populations.
2025
Understanding human population history using transposable elements.
Genetics plays an increasingly important role in our understanding of Cultural Heritage. Genomic analysis in combination with archaeological material and historical evidence have been shown to be highly complementary fields of study, uncovering information that would not be possible if they were used in isolation. One of the most common uses of genomic studies is to identify admixture using three-population testing (f3), which can help to identify the migrations and movements of people all over the world. A negative, significant f3 implies that a target population contains some level of admixture between two source populations. The majority of studies currently use Single Nucleotide Polymorphism (SNP) loci to calculate these statistics. It has been shown previously in the literature that Transposable Element (TE) loci are also suitable for ancestry and admixture analyses at a continental scale. Using the Simons Genome Diversity Project (SGDP) and Human Genome Diversity Project (HGDP) datasets, this study seeks to test whether transposable elements can also be used at a finer, subcontinental scale to produce significant admixture signals. Comparing against an array of statistically significant SNP-derived f3-statistics published in the literature, this study found that many of these negative admixture signals were reproducible, supporting the idea that transposable elements can be used as a secondary dataset for admixture testing. However, the study also found a smaller subset of results with the opposite direction to the published results. These were looked at in greater detail to identify target alleles with notably higher/lower frequencies relative to source populations. This may warrant further study, as it raises the possibility for TE-derived f-statistics to be used as an initial screening tool to look for alleles that may be under the influence of selection in target populations.
Admixture
Admixtools
Transposable element
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12608/113253