Abstract

We developed haploR, an R package for querying web based genome annotation tools HaploReg and RegulomeDB. haploR gathers information in a data frame which is suitable for downstream bioinformatic analyses. This will facilitate post-genome wide association studies streamline analysis for rapid discovery and interpretation of genetic associations.

Highlights

  • Genome wide association studies (GWAS) have produced a significant amount of data

  • To better understand the biological mechanisms involved in complex trait regulations, web-based tools, such as HaploReg[1] and RegulomeDB2, were proposed

  • These tools offer a link of detected genetic variants to additional postGWAS information about linkage disequilibrium (LD), expression quantitative trait loci, allele frequencies (AF), protein functions, and chromatin states (for annotated single-nucleotide polymorphisms (SNP))

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Summary

Introduction

To better understand the biological mechanisms involved in complex trait regulations, web-based tools, such as HaploReg[1] and RegulomeDB2, were proposed These tools offer a link of detected genetic variants to additional postGWAS information about linkage disequilibrium (LD), expression quantitative trait loci (eQTL), allele frequencies (AF), protein functions, and chromatin states (for annotated single-nucleotide polymorphisms (SNP)). The user needs to advise that in a number of situations, extra precautions must be made Two examples of this would be saving the results in different file formats (TXT, CSV, XLSX, etc.,) or taking advantage of their highlyoptimized search engines from custom scripts.

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