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Genome-wide SNP discovery in associating with human diseases phenotypes

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Author(s): PH Chaminda Kumanayake

Journal: Sri Lanka Journal of Bio-Medical Informatics
ISSN 2012-6077

Volume: 3;
Issue: 1;
Start page: 25;
Date: 2013;
Original page

Keywords: Monogenic Mendalian | SNPprofile | SNPmap

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.
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