Identification of segmental duplications in the human genome

Sequencing the human genome early in this decade marked one of the greatest achievements in the advancement in to science. Soon it opened up a great opportunity to the scientific community worldwide with a massive amount of biological data to be explored. Segmental duplication is one of the structural variations found in the genome sequence. It counts for about 5% of genome and with relatively long segments of sequence of more than 1KB in length and more than 90% of sequence identity. Segmental duplications are distributed within the chromosome and throughout the genome and mostly denced in the subtelometric and pericentrometric regions. Segmental duplications play major rule in the evolutionary history and its association with genetic disorders. This review intends to explore in to the publications on previous studies and to tools and methodology they followed to achieve of their objective of identifying segmental duplications. Finding the similar sequences was done by local sequence alignment algorithms, most frequently with Blast program followed by global alignment algorithms. Further some other tools such as Blat, DupMasker and MUMmer also were being used. Sri Lanka Journal of Bio-Medical Informatics 2012; 3 (1):12-19 DOI: http://dx.doi.org/10.4038/sljbmi.v3i1.2467