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The Structure of Haplotype Blocks in the Human Genome
TLDR
It is shown that the human genome can be parsed objectively into haplotype blocks: sizable regions over which there is little evidence for historical recombination and within which only a few common haplotypes are observed.
A map of human genome variation from population-scale sequencing
TLDR
The pilot phase of the 1000 Genomes Project is presented, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms, and the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants are described.
A second generation human haplotype map of over 3.1 million SNPs
TLDR
The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.
Detecting recent positive selection in the human genome from haplotype structure
TLDR
A framework for detecting the genetic imprint of recent positive selection by analysing long-range haplotypes in human populations is introduced, and the core haplotypes carrying the proposed protective mutation stand out and show significant evidence of selection.
Calibrating a coalescent simulation of human genome sequence variation.
TLDR
The first calibrated population genetic model is presented and it is shown that, while still arbitrary, it successfully generates simulated data that closely resemble empirical data in allele frequency, linkage disequilibrium, and population differentiation.
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
TLDR
This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy.
Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels
TLDR
The discovery of associated variants in unsuspected genes and outside coding regions illustrates the ability of genome-wide association studies to provide potentially important clues to the pathogenesis of common diseases.
Genetic Mapping in Human Disease
TLDR
The intellectual foundations of genetic mapping of Mendelian and complex traits in humans are discussed, lessons emerging from linkage analysis of MendELian diseases and genome-wide association studies of common diseases are examined, and questions and challenges that lie ahead are discussed.
Positive Natural Selection in the Human Lineage
Positive natural selection is the force that drives the increase in prevalence of advantageous traits, and it has played a central role in our development as a species. Until recently, the study of
An SNP map of the human genome generated by reduced representation shotgun sequencing
TLDR
A simple but powerful method, called reduced representation shotgun (RRS) sequencing, for creating SNP maps, which facilitates the rapid, inexpensive construction of SNP maps in biomedically and agriculturally important species.
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