The International HapMap Project

doi:10.1038/NATURE02168

Journal ArticleDOI

The International HapMap Project

John W. Belmont, +145 more

- 18 Dec 2003 -

Nature

- Vol. 426, Iss: 6968, pp 789-796

TLDR

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.

Abstract:

The goal of the International HapMap Project is to determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in the public domain. An international consortium is developing a map of these patterns across the genome by determining the genotypes of one million or more sequence variants, their frequencies and the degree of association between them, in DNA samples from populations with ancestry from parts of Africa, Asia and Europe. The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance our ability to choose targets for therapeutic intervention.

Citations

PDF

Open Access

More filters

Journal ArticleDOI

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, +10 more

- 01 Sep 2010 -

Genome Research

TL;DR: The GATK programming framework enables developers and analysts to quickly and easily write efficient and robust NGS tools, many of which have already been incorporated into large-scale sequencing projects like the 1000 Genomes Project and The Cancer Genome Atlas.

...read moreread less

Journal ArticleDOI

Haploview: analysis and visualization of LD and haplotype maps

Jeffrey C. Barrett, +3 more

- 15 Jan 2005 -

Bioinformatics

TL;DR: Haploview is a software package that provides computation of linkage disequilibrium statistics and population haplotype patterns from primary genotype data in a visually appealing and interactive interface.

...read moreread less

Journal ArticleDOI

DnaSP v5

Pablo Librado, +1 more

- 01 Jun 2009 -

Bioinformatics

TL;DR: Version 5 implements a number of new features and analytical methods allowing extensive DNA polymorphism analyses on large datasets, including visualizing sliding window results integrated with available genome annotations in the UCSC browser.

...read moreread less

Journal ArticleDOI

A haplotype map of the human genome

John W. Belmont, +232 more

TL;DR: 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.

...read moreread less

Journal ArticleDOI

A second generation human haplotype map of over 3.1 million SNPs

Kelly A. Frazer, +237 more

- 18 Oct 2007 -

Nature

TL;DR: 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.

...read moreread less

Collapse

References

PDF

Open Access

More filters

Journal ArticleDOI

Initial sequencing and analysis of the human genome.

Eric S. Lander, +248 more

- 15 Feb 2001 -

Nature

TL;DR: The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.

...read moreread less

Journal ArticleDOI

The sequence of the human genome.

J. Craig Venter, +272 more

- 16 Feb 2001 -

Science

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.

...read moreread less

Journal ArticleDOI

dbSNP: the NCBI database of genetic variation

Stephen T. Sherry, +6 more

- 01 Jan 2001 -

Nucleic Acids Research

TL;DR: The dbSNP database is a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, and is integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project data.

...read moreread less

Journal ArticleDOI

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

Jean-Pierre Hugot, +21 more

- 31 May 2001 -

Nature

TL;DR: It is suggested that the NOD2 gene product confers susceptibility to Crohn's disease by altering the recognition of these components and/or by over-activating NF-kB in monocytes, thus documenting a molecular model for the pathogenic mechanism of Crohn’s disease that can now be further investigated.

...read moreread less