This literature review was done with the objective of reviewing the genome-wide haplotype analyses which have been already carried out globally. After the completion of the human genome project, several studies on haplotype analysis on various aspects have been published. Such knowledge may provide valuable information on human evolutionary history and lead to indentify genetic variants which that are responsible to occurrence of various diseases. In addition to the review on International HapMap project, this review emphasizes on the current understanding of the haplotype structure, diversity and distribution of haplotypes, as well as current understanding on linkage disequilibrium with its relationship to the haplotypes. It further reviews the tools available for haplotype analysis with their statistical applicability.
Sri Lanka Journal of Bio-Medical Informatics 2012;3(1):20-24