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BMC Genetics

, 14:39

Statistical and computational genetics

Abstract

The candidate gene approach has been a pioneer in the field of genetic epidemiology, identifying risk alleles and their association with clinical traits. With the advent of rapidly changing technology, there has been an explosion of in silico tools available to researchers, giving them fast, efficient resources and reliable strategies important to find casual gene variants for candidate or genome wide association studies GWAS. In this review, following a description of candidate gene prioritisation, we summarise the approaches to single nucleotide polymorphism SNP prioritisation and discuss the tools available to assess functional relevance of the risk variant with consideration to its genomic location. The strategy and the tools discussed are applicable to any study investigating genetic risk factors associated with a particular disease. Some of the tools are also applicable for the functional validation of variants relevant to the era of GWAS and next generation sequencing NGS.

KeywordsCandidate gene SNP LD In-silico Association studies Cancer Electronic supplementary materialThe online version of this article doi:10.1186-1471-2156-14-39 contains supplementary material, which is available to authorized users.

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Autor: Radhika Patnala - Judith Clements - Jyotsna Batra

Fuente: https://link.springer.com/







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