Joshua M. Akey

Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History (2009)

Scheinfeldt, Laura B., Biswas, Shameek, Madeoy, Jennifer, Connelly, Caitlin F., Schadt, Eric E., Akey, Joshua M.

Mutations in the human gene ALMS1 result in Alström Syndrome, which presents with early childhood obesity and insulin resistance leading to Type 2 diabetes. Previous genomewide scans for selection...

The genomic architecture of segmental duplications and associated copy number variants in dogs (2009)

Nicholas, Thomas J., Cheng, Ze, Ventura, Mario, Mealey, Katrina, Eichler, Evan E., Akey, Joshua M.

Structural variation is an important and abundant source of genetic and phenotypic variation. Here we describe the first systematic and genome-wide analysis of segmental duplications and associated...

Constructing genomic maps of positive selection in humans: Where do we go from here? (2009)

Akey, Joshua M.

Identifying targets of positive selection in humans has, until recently, been frustratingly slow, relying on the analysis of individual candidate genes. Genomics, however, has provided the necessary...

Mapping gene expression quantitative trait loci by singular value decomposition and independent component analysis (2008)

Biswas, Shameek, Storey, John D, Akey, Joshua M

Abstract Background The combination of gene expression profiling with linkage analysis has become a powerful paradigm for mapping gene expression quantitative trait loci (eQTL). To date, most studies...

Telomere Length as a Quantitative Trait: Genome-Wide Survey and Genetic Mapping of Telomere Length-Control Genes in Yeast (2006)

Tonibelle Gatbonton, Maria Imbesi, Melisa Nelson, Joshua M. Akey, Douglas M. Ruderfer, Leonid Kruglyak, ...

Telomere length-variation in deletion strains of Saccharomyces cerevisiae was used to identify genes and pathways that regulate telomere length. We found 72 genes that when deleted confer short...

TRPV6 exhibits unusual patterns of polymorphism and divergence in worldwide populations (2006)

Akey, Joshua M., Swanson, Willie J., Madeoy, Jennifer, Eberle, Michael, Shriver, Mark D.

A striking footprint of positive selection was recently identified on chromosome 7q34–35 that spans at least 115 kb and encompasses four known genes (KEL, TRPV5, TRPV6, EPHB6). The signature...

Genomic signatures of positive selection in humans and the limits of outlier approaches (2006)

Kelley, Joanna L., Madeoy, Jennifer, Calhoun, John C., Swanson, Willie, Akey, Joshua M.

Identifying regions of the human genome that have been targets of positive selection will provide important insights into recent human evolutionary history and may facilitate the search for complex...

Genomic signatures of positive selection in humans and the limits of outlier approaches (2006)

Kelley, Joanna L., Madeoy, Jennifer, Calhoun, John C., Swanson, Willie, Akey, Joshua M.

Identifying regions of the human genome that have been targets of positive selection will provide important insights into recent human evolutionary history and may facilitate the search for complex...

TRPV6 Exhibits Unusual Patterns of Polymorphism and Divergence in Worldwide Populations (2006)

Akey, Joshua M., Swanson, Willie J., Madeoy, Jennifer, Eberle, Michael, Shriver, Mark D.

A striking footprint of positive selection was recently identified on chromosome 7q34-35 that spans at least 115 kb and encompasses four known genes (KEL, TRPV5, TRPV6, EPHB6). The signature of...

Multiple Locus Linkage Analysis of Genomewide Expression in Yeast (2005)

John D. Storey, Joshua M. Akey, Leonid Kruglyak

Complex traits are frequently under control of multiple loci. This new method simultaneously maps multiple gene expression quantitative trait loci and assesses their significance within Saccharomyces...

Multiple Locus Linkage Analysis of Genomewide Expression in Yeast (2005)

John D. Storey, Joshua M. Akey, Leonid Kruglyak

With the ability to measure thousands of related phenotypes from a single biological sample, it is now feasible to genetically dissect systems-level biological phenomena. The genetics of...

Simultaneous genotyping, gene-expression measurement, and detection of allele-specific expression with oligonucleotide arrays (2005)

Ronald, James, Akey, Joshua M., Whittle, Jacqueline, Smith, Erin N., Yvert, Gael, Kruglyak, Leonid

Oligonucleotide microarrays provide a high-throughput method for exploring genomes. In addition to their utility for gene-expression analysis, oligonucleotide-expression arrays have also been used to...

Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes (2004)

Joshua M. Akey, Michael A. Eberle, Mark J. Rieder, Christopher S. Carlson, Mark D. Shriver, Deborah A. Nickerson, ...

An analysis of 132 human genes suggests that the migration of modern humans out of Africa into new environments was accompanied by genetic adaptations to emergent selective forces.

Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes (2004)

Joshua M. Akey, Michael A. Eberle, Mark J. Rieder, Christopher S. Carlson, Mark D. Shriver, Deborah A. Nickerson, ...

Identifying regions of the human genome that have been targets of natural selection will provide important insights into human evolutionary history and may facilitate the identification of complex...

The Effect of Single Nucleotide Polymorphism Identification Strategies on Estimates of Linkage Disequilibrium (2003)

Akey, Joshua M., Zhang, Kun, Xiong, Momiao, Jin, Li

Currently, there is tremendous interest in characterizing the magnitude and distribution of linkage disequilibrium (LD) throughout the human genome, which will provide the necessary foundation for...

The Effect of Single Nucleotide Polymorphism Identification Strategies on Estimates of Linkage Disequilibrium (2003)

Akey, Joshua M., Zhang, Kun, Xiong, Momiao, Jin, Li

At present there is tremendous interest in characterizing the magnitude and distribution of linkage disequilibrium (LD) throughout the human genome, which will provide the necessary foundation for...

The Effect of Single Nucleotide Polymorphism Identification Strategies on Estimates of Linkage Disequilibrium (2003)

Akey, Joshua M., Zhang, Kun, Xiong, Momiao, Jin, Li

Currently, there is tremendous interest in characterizing the magnitude and distribution of linkage disequilibrium (LD) throughout the human genome, which will provide the necessary foundation for...

Interrogating a High-Density SNP Map for Signatures of Natural Selection

Akey, Joshua M., Zhang, Ge, Zhang, Kun, Jin, Li, Shriver, Mark D.

Identifying genomic regions that have been targets of natural selection remains one of the most important and challenging areas of research in genetics. To this end, we report an analysis of 26,530...

Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes

Akey, Joshua M, Eberle, Michael A, Rieder, Mark J, Carlson, Christopher S, Shriver, Mark D, Nickerson, Deborah A, ...

Identifying regions of the human genome that have been targets of natural selection will provide important insights into human evolutionary history and may facilitate the identification of complex...

Simultaneous genotyping, gene-expression measurement, and detection of allele-specific expression with oligonucleotide arrays

Ronald, James, Akey, Joshua M., Whittle, Jacqueline, Smith, Erin N., Yvert, Gael, Kruglyak, Leonid

Oligonucleotide microarrays provide a high-throughput method for exploring genomes. In addition to their utility for gene-expression analysis, oligonucleotide-expression arrays have also been used to...

Multiple Locus Linkage Analysis of Genomewide Expression in Yeast

Storey, John D, Akey, Joshua M, Kruglyak, Leonid

With the ability to measure thousands of related phenotypes from a single biological sample, it is now feasible to genetically dissect systems-level biological phenomena. The genetics of...

Fitting background-selection predictions to levels of nucleotide variation and divergence along the human autosomes

Reed, Floyd A., Akey, Joshua M., Aquadro, Charles F.

The roles of positive directional selection (selective sweeps) and negative selection (background selection) in shaping the genome-wide distribution of genetic variation in humans remain largely...

The Effect That Genotyping Errors Have on the Robustness of Common Linkage-Disequilibrium Measures

Akey, Joshua M., Zhang, Kun, Xiong, Momiao, Doris, Peter, Jin, Li

The rapid development of a dense single-nucleotide–polymorphism marker map has stimulated numerous studies attempting to characterize the magnitude and distribution of background linkage...

Telomere Length as a Quantitative Trait: Genome-Wide Survey and Genetic Mapping of Telomere Length-Control Genes in Yeast

Gatbonton, Tonibelle, Imbesi, Maria, Nelson, Melisa, Akey, Joshua M, Ruderfer, Douglas M, Kruglyak, Leonid, ...

Telomere length-variation in deletion strains of Saccharomyces cerevisiae was used to identify genes and pathways that regulate telomere length. We found 72 genes that when deleted confer short...

Interrogating a High-Density SNP Map for Signatures of Natural Selection

Akey, Joshua M., Zhang, Ge, Zhang, Kun, Jin, Li, Shriver, Mark D.

Identifying genomic regions that have been targets of natural selection remains one of the most important and challenging areas of research in genetics. To this end, we report an analysis of 26,530...

Distribution of Recombination Crossovers and the Origin of Haplotype Blocks: The Interplay of Population History, Recombination, and Mutation

Wang, Ning, Akey, Joshua M., Zhang, Kun, Chakraborty, Ranajit, Jin, Li

Recent studies suggest that haplotypes are arranged into discrete blocklike structures throughout the human genome. Here, we present an alternative haplotype block definition that assumes no...

Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes

Akey, Joshua M, Eberle, Michael A, Rieder, Mark J, Carlson, Christopher S, Shriver, Mark D, Nickerson, Deborah A, ...

Identifying regions of the human genome that have been targets of natural selection will provide important insights into human evolutionary history and may facilitate the identification of complex...

Simultaneous genotyping, gene-expression measurement, and detection of allele-specific expression with oligonucleotide arrays

Ronald, James, Akey, Joshua M., Whittle, Jacqueline, Smith, Erin N., Yvert, Gael, Kruglyak, Leonid

Oligonucleotide microarrays provide a high-throughput method for exploring genomes. In addition to their utility for gene-expression analysis, oligonucleotide-expression arrays have also been used to...

Multiple Locus Linkage Analysis of Genomewide Expression in Yeast

Storey, John D, Akey, Joshua M, Kruglyak, Leonid

With the ability to measure thousands of related phenotypes from a single biological sample, it is now feasible to genetically dissect systems-level biological phenomena. The genetics of...

Fitting background-selection predictions to levels of nucleotide variation and divergence along the human autosomes

Reed, Floyd A., Akey, Joshua M., Aquadro, Charles F.

The roles of positive directional selection (selective sweeps) and negative selection (background selection) in shaping the genome-wide distribution of genetic variation in humans remain largely...

The Effect That Genotyping Errors Have on the Robustness of Common Linkage-Disequilibrium Measures

Akey, Joshua M., Zhang, Kun, Xiong, Momiao, Doris, Peter, Jin, Li

The rapid development of a dense single-nucleotide–polymorphism marker map has stimulated numerous studies attempting to characterize the magnitude and distribution of background linkage...

Telomere Length as a Quantitative Trait: Genome-Wide Survey and Genetic Mapping of Telomere Length-Control Genes in Yeast

Gatbonton, Tonibelle, Imbesi, Maria, Nelson, Melisa, Akey, Joshua M, Ruderfer, Douglas M, Kruglyak, Leonid, ...

Telomere length-variation in deletion strains of Saccharomyces cerevisiae was used to identify genes and pathways that regulate telomere length. We found 72 genes that when deleted confer short...

Genomic signatures of positive selection in humans and the limits of outlier approaches

Kelley, Joanna L., Madeoy, Jennifer, Calhoun, John C., Swanson, Willie, Akey, Joshua M.

Identifying regions of the human genome that have been targets of positive selection will provide important insights into recent human evolutionary history and may facilitate the search for complex...

The Evolution of Gene Expression QTL in Saccharomyces cerevisiae

Ronald, James, Akey, Joshua M.

Understanding the evolutionary forces that influence patterns of gene expression variation will provide insights into the mechanisms of evolutionary change and the molecular basis of phenotypic...

Gene-Expression Variation Within and Among Human Populations

Storey, John D., Madeoy, Jennifer, Strout, Jeanna L., Wurfel, Mark, Ronald, James, Akey, Joshua M.

Understanding patterns of gene-expression variation within and among human populations will provide important insights into the molecular basis of phenotypic diversity and the interpretation of...

Adaptive evolution in humans revealed by the negative correlation between the polymorphism and fixation phases of evolution

Gojobori, Jun, Tang, Hua, Akey, Joshua M., Wu, Chung-I

The selective forces acting on amino acid substitutions may be different in the two phases of molecular evolution: polymorphism and fixation. Negative selection and genetic drift may dominate the...

The genomic architecture of segmental duplications and associated copy number variants in dogs

Nicholas, Thomas J., Cheng, Ze, Ventura, Mario, Mealey, Katrina, Eichler, Evan E., Akey, Joshua M.

Structural variation is an important and abundant source of genetic and phenotypic variation. Here we describe the first systematic and genome-wide analysis of segmental duplications and associated...

Genome-wide Insights into the Patterns and Determinants of Fine-Scale Population Structure in Humans

Biswas, Shameek, Scheinfeldt, Laura B., Akey, Joshua M.

Studying genomic patterns of human population structure provides important insights into human evolutionary history and the relationship among populations, and it has significant practical...