A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population.

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.

Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.

The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.

A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.

The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.

Individuals classified according to their sex, racial origin, religion, common place of living, financial or social status, or some other cultural or behavioral attribute. (UMLS, 2003)

Databases devoted to knowledge about specific genes and gene products.

Genotypic differences observed among individuals in a population.

The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

Any method used for determining the location of and relative distances between genes on a chromosome.

An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.

Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

Sequential operating programs and data which instruct the functioning of a digital computer.

A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.

The systematic study of the complete DNA sequences (GENOME) of organisms.

Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

Genetic loci associated with a QUANTITATIVE TRAIT.

A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

Databases containing information about NUCLEIC ACIDS such as BASE SEQUENCE; SNPS; NUCLEIC ACID CONFORMATION; and other properties. Information about the DNA fragments kept in a GENE LIBRARY or GENOMIC LIBRARY is often maintained in DNA databases.

Individuals whose ancestral origins are in the continent of Europe.

Small-scale tests of methods and procedures to be used on a larger scale if the pilot study demonstrates that these methods and procedures can work.

A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.

Individuals whose ancestral origins are in the continent of Africa.

A geographic area of east and southeast Asia encompassing CHINA; HONG KONG; JAPAN; KOREA; MACAO; MONGOLIA; and TAIWAN.

A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.

Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).

A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).

A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.

Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.

Mathematical procedure that transforms a number of possibly correlated variables into a smaller number of uncorrelated variables called principal components.

Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.

Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.