**8. Conclusion and future perspectives**

Single nucleotide polymorphisms (SNPs) have become an important application in the development and research of genetic diseases or other phenotypic traits. Haplotypes are groups of SNPs that are generally inherited together. Haplotypes can have stronger correlations with diseases or other phenotypic effects compared with individual SNPs and may therefore provide increased diagnostic accuracy in some cases.

Polymorphic tandem repeated sequences have emerged as important genetic markers and initially, variable number tandem repeats (VNTRs) were used in DNA fingerprinting; in recent years, evidence has been accumulated for the involvement of VNTR repeats in a wide spectrum of pathological states.

The new global CNV map will transform medical research in four main areas: detection for genes underlying common diseases, study of familial genetic conditions, exclude variation found in unaffected individuals, helping researchers to target the region that might be involved and the data generated will also contribute to a more accurate and complete human genome reference sequence used by all biomedical scientists. Currently, approximately 2000 CNVs have been described; there could be thousands more CNVs in the human population. About 100 CNVs were detected in each genome tested with the average size being 250,000 bases (an average gene is 60,000 bases). With advanced molecular technologies more CNVs will be discovered and more DNA samples from worldwide populations are examined.

Recently, there has been substantial progress in understanding genome content which centered on protein-coding genes which considered a functional DNA sequence moving away for many discoveries, many repeat families, and various copy number variations that play an important role in genome structure, evolution, and diversity. Additional efforts are being placed to develop strategies that would overcome the obstacles in alignment next-generation sequencing data. "Future precision medicine efforts will direct to connect genotypes to phenotypes and distinguish common, from rare or potentially disease linked variants. New longread sequencing approaches are needed to meet this challenge."

Other important applications of genetic polymorphism knowledge are improving health care through gene therapy, discovery of new drugs and drug targets, and upgradation of the discovery processes with advanced technologies.

Advances in molecular technologies, DNA sequencing technology, and microarray, coupled with novel, efficient computational analysis tools, have made it possible to analyze sequencebased experimental data, more discoveries, and development at a rapid rate.
