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Genome-wide SNP discovery in associating with human diseases phenotypes

Author:

PH Chaminda Kumanayake

Dental officer, health informatics, Ministry of Health, Colombo, LK
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Abstract

Single Nucleotide Polymorphisms or SNPs are a most abundant, stable and simple base pair changes that occur in the genome. It is an important variation that can be used to describe many unsolved problems in modern medicine such as individual variation to disease response, differences in response to treatment, allergies to drug treatment, etc. Monogenic Mendalian diseases are very rear and most of the time the disease has complex multi-genetic involvement. With the advancement of sequencing technologies SNP discovery is becoming fast, accurate and less expensive. As a result the availability of SNP data has become more abundant and is used to create SNPmap and SNPprofile. This SNP map and SNP profile helps to locate the genes that involve some complex diseases like diabetes, vascular diseases, and mental disorders and to describe individual variation in response to treatment as well as finding a drug target in pharmacogenomics. With such developments in Bio-informatics, the dream of “individualized treatment” is becoming a reality.

Sri Lanka Journal of Bio-Medical Informatics 2012;3(1):25-31

DOI: http://dx.doi.org/10.4038/sljbmi.v3i1.2451

How to Cite: Kumanayake, P.C., (2013). Genome-wide SNP discovery in associating with human diseases phenotypes. Sri Lanka Journal of Bio-Medical Informatics. 3(1), pp.25–31. DOI: http://doi.org/10.4038/sljbmi.v3i1.2451
Published on 08 Jan 2013.
Peer Reviewed

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