ArticleProceedings of the National Academy of Sciences of the United States of America2003
Sequence variations in the public human genome data reflect a bottlenecked population history.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- A Computational Approach for Modeling the Allele Frequency Spectrum of Populations with Arbitrarily Varying Size.Genomics, proteomics & bioinformatics · 2019Article
- Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.BMC medical genomics · 2018Article
- Importance of human demographic history knowledge in genetic studies involving multi-ethnic cohorts.Wellcome open research · 2018Article
- Article
- Inferring Selective Constraint from Population Genomic Data Suggests Recent Regulatory Turnover in the Human Brain.Genome biology and evolution · 2015Article
- Implications of population structure and ancestry on asthma genetic studies.Current opinion in allergy and clinical immunology · 2014Review
- Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes.PLoS genetics · 2014Article
- Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine.The Journal of allergy and clinical immunology · 2014Review
- Article
- Mitochondrial pathogenic mutations are population-specific.Biology direct · 2010Article
- Cattle demographic history modelled from autosomal sequence variation.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2010Article
- Article
- Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regions.PloS one · 2010Article
- Genome-wide association studies in cancer--current and future directions.Carcinogenesis · 2010Article
- Multiplex padlock targeted sequencing reveals human hypermutable CpG variations.Genome research · 2009Article
- Statistical evaluation of alternative models of human evolution.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- Nucleotide variation and haplotype diversity in a 10-kb noncoding region in three continental human populations.Genetics · 2006Article
- Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.American journal of human genetics · 2006Article
- Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes.Proceedings of the National Academy of Sciences of the United States of America · 2005Article
- Analysis of concordance of different haplotype block partitioning algorithms.BMC bioinformatics · 2005Article
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20 authors.
Funding
Abstract
Single-nucleotide polymorphisms (SNPs) constitute the great majority of variations in the human genome, and as heritable variable landmarks they are useful markers for disease mapping and resolving population structure. Redundant coverage in overlaps of large-insert genomic clones, sequenced as part of the Human Genome Project, comprises a quarter of the genome, and it is representative in terms of base compositional and functional sequence features. We mined these regions to produce 500,000 high-confidence SNP candidates as a uniform resource for describing nucleotide diversity and its regional variation within the genome. Distributions of marker density observed at different overlap length scales under a model of recombination and population size change show that the history of the population represented by the public genome sequence is one of collapse followed by a recent phase of mild size recovery. The inferred times of collapse and recovery are Upper Paleolithic, in agreement with archaeological evidence of the initial modern human colonization of Europe.
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