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Open AccessJournal ArticleDOI

A haplotype map of the human genome

John W. Belmont, +232 more
- Vol. 437, Iss: 7063, pp 1299-1320
TLDR
A public database of common variation in the human genome: more than one million single nucleotide polymorphisms for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted.
Abstract
Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.

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Citations
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Journal ArticleDOI

Next generation disparities in human genomics: concerns and remedies.

TL;DR: To avoid the genetics community contributing to healthcare disparities, it is important to adopt measures to ensure that populations of diverse ancestry are included in genomic studies, and that no major population groups are excluded.
Journal ArticleDOI

Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia

TL;DR: Results of a case–control WGA study in schizophrenia revealed a strong effect of a novel locus near the CSF2RA gene in the pseudoautosomal region, which may help explain prior epidemiologic data relating the risk for this illness to altered rates of autoimmune disorders, prenatal infection and familial leukemia.
Journal ArticleDOI

Nuclear receptor coregulators and human disease.

TL;DR: It is substantiated that coregulators are broadly implicated in human pathological states and will be of growing future interest in clinical medicine.
Journal ArticleDOI

Genome-wide association study of obsessive-compulsive disorder.

S. E. Stewart, +127 more
- 01 Jul 2013 - 
TL;DR: Although no SNPs were identified to be associated with OCD at a genome-wide significant level in the combined trio–case–control sample, a significant enrichment of methylation QTLs and frontal lobe expression quantitative trait loci (eQTLs) was observed within the top-ranked SNPs, suggesting these top signals may have a broad role in gene expression in the brain, and possibly in the etiology of OCD.
References
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Journal ArticleDOI

Gene Ontology: tool for the unification of biology

TL;DR: The goal of the Gene Ontology Consortium is to produce a dynamic, controlled vocabulary that can be applied to all eukaryotes even as knowledge of gene and protein roles in cells is accumulating and changing.
Journal ArticleDOI

The sequence of the human genome.

J. Craig Venter, +272 more
- 16 Feb 2001 - 
TL;DR: Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems are indicated.
Journal ArticleDOI

Initial sequencing and comparative analysis of the mouse genome.

Robert H. Waterston, +222 more
- 05 Dec 2002 - 
TL;DR: The results of an international collaboration to produce a high-quality draft sequence of the mouse genome are reported and an initial comparative analysis of the Mouse and human genomes is presented, describing some of the insights that can be gleaned from the two sequences.
Journal ArticleDOI

The International HapMap Project

John W. Belmont, +145 more
- 18 Dec 2003 - 
TL;DR: The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance the ability to choose targets for therapeutic intervention.
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