Article ID Journal Published Year Pages File Type
2820983 Genomics 2012 7 Pages PDF
Abstract

A wealth of genomic information is available in public and private databases. However, this information is underutilized for uncovering population specific and functionally relevant markers underlying complex human traits. Given the huge amount of SNP data available from the annotation of human genetic variation, data mining is a faster and cost effective approach for investigating the number of SNPs that are informative for ancestry. In this study, we present AncestrySNPminer, the first web-based bioinformatics tool specifically designed to retrieve Ancestry Informative Markers (AIMs) from genomic data sets and link these informative markers to genes and ontological annotation classes. The tool includes an automated and simple “scripting at the click of a button” functionality that enables researchers to perform various population genomics statistical analyses methods with user friendly querying and filtering of data sets across various populations through a single web interface. AncestrySNPminer can be freely accessed at https://research.cchmc.org/mershalab/AncestrySNPminer/login.php.

► Genetic ancestry inference becomes the major areas of research in recent years. ► A wealth of genomic information is stored in commercial and public databases. ► AncestrySNPminer generates ancestry informative markers from genomic data sets. ► AncestrySNPminer helps to perform various population genomics statistical analyses. ► AncestrySNPminer includes user defined filtering criteria with 1 click functionality.

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Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
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