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Haplotype estimation : ウィキペディア英語版 | Haplotype estimation In genetics, haplotype estimation (also known as, phasing) refers to the process of statistical estimation of haplotypes from genotype data. The most common situation arises when genotypes are collected at a set of polymorphic sites from a group of individuals. For example, in human genetics genome-wide association studies collect genotypes in thousands of individuals at between 200,000-5,000,000 SNPs using microarrays. Haplotype estimation methods are used in the analysis of these datasets and allow genotype imputation of alleles from reference databases such as the HapMap Project and the 1000 Genomes Project. Haplotype estimation is sometimes referred to as phasing. ==Genotypes and haplotypes==
Genotypes measure the unordered combination of alleles at each site, whereas haplotypes are the two sequence of alleles that have been inherited together from the individuals parents. When there are heterozygous genotypes present in an individual's set of genotypes, there will be possible pairs of haplotypes that could underlie the genotypes. If there are missing genotypes then the number of possible haplotype pairs increases.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Haplotype estimation」の詳細全文を読む
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