Genome-wide SNP discovery in associating with human diseases phenotypes

Sri Lanka Journal of Bio-medical Informatics Pub Date : 2013-01-08 DOI:10.4038/SLJBMI.V3I1.2451

P.H.C. Kumanayake

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引用次数: 2

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

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发现与人类疾病表型相关的全基因组 SNP

单核苷酸多态性(Single Nucleotide Polymorphisms, SNPs)是基因组中最丰富、最稳定、最简单的碱基对变化。它是一个重要的变异，可以用来描述现代医学中许多尚未解决的问题，如个体对疾病反应的差异、对治疗的反应差异、对药物治疗的过敏等。单基因遗传病非常少见，大多数疾病具有复杂的多基因参与。随着测序技术的进步，SNP的发现正变得快速、准确和廉价。因此，SNP数据的可用性变得更加丰富，并用于创建SNPmap和SNPprofile。该SNP图谱和SNP谱有助于定位涉及糖尿病、血管疾病和精神障碍等一些复杂疾病的基因，并有助于描述个体对治疗反应的差异，以及在药物基因组学中寻找药物靶点。随着生物信息学的发展，“个性化治疗”的梦想正在成为现实。斯里兰卡生物医学信息学杂志2012;3 (1):25-31 DOI: http://dx.doi.org/10.4038/sljbmi.v3i1.2451

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Sri Lanka Journal of Bio-medical Informatics

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