HapMap


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HapMap

(hăp′măp′)
n.
A database of common genetic variants in human beings from various regions of the world, the result of an international project to describe patterns of genetic variation and their relation to various diseases.

HapMap

(hap'map)
A catalogue of human genetic variables being gathered worldwide to help increase understanding of genetic diseases and disorders.

HapMap

(hap′map″) [ hap(lotype) map]
A record of the presence of single nucleotide polymorphisms (alleles) on the chromosomes of some individuals but not others. It is used to identify the inheritance of diseases that do not follow simple mendelian genetics.
References in periodicals archive ?
Furthermore, a European HapMap Cohort study reported that rs3128917 G and rs9380343 T allele distributions were seen in 25% and 6% for CEU in a healthy population.
LD was estimated by LocusZoom [80] on the basis of CEU (Utah residents of Northern and Western European ancestry) HapMap haplotype data.
Minor allele frequency of all the polymorphisms was consistent with that reported in the HapMap database.
ncbi.nlm.nih.gov/sites/entrez?db=Snp) with a frequency over 5% were selected, and tagging SNPs were searched in the HapMap website (http://www.hapmap.org/index.html.
Coordinate ranges for all HapMap 2 (Build 36) SNPs were converted to Build 37 using liftOver (Kuhn et al.
We report an integrated validation strategy using HapMap samples and samples with specific disease variants for a combined targeted NGS panel for 5 diseases, including early infantile epileptic encephalopathy, craniofacial disorders, RASopathy disorders, hearing loss, and hereditary cancer.
With the completion of the International HapMap Project and 1000 Genomes Project, about ten millions SNPs of human were annotated, among which more than 3 million are common SNPs.
The International Human Genome Sequencing Project [1] and the International HapMap Project [2] have generated considerable data on genetic variants and candidate genes for many diseases, including cancer.
All genotypes were simulated with the help of a reference dataset from the International HapMap Consortium [37].
According to the results from International HapMap Project (http://hapmap.ncbi.nlm.nih.gov/) the mutation rates of COX-1 gene polymorphisms, except rs3842788, are very low in Han Chinese, even zero in C22T (R8W) and C714A (L237M).
Imputation was conducted by MACH [11] or IMPUTE [12] against the HapMap CEU reference genome (build 36).
Additionally, minor allele frequency (MAF) of these SNPs in the HapMap CHB (Chinese Han Beijing) population was >5%.