SCAN: A systems biology approach to pharmacogenomic discovery

Eric R. Gamazon, R. Stephanie Huang, Nancy J. Cox

Research output: Chapter in Book/Report/Conference proceedingChapter

8 Scopus citations

Abstract

Genome-wide association (GWA) studies have identified thousands of genetic variants that contribute to disease and pharmacologic traits. More recently, high-throughput sequencing studies promise to provide a more complete catalog of genetic variants with roles in human phenotypic variation. Yet, characterizing the influence of functional variants on genes, RNAs, proteins, and ultimately disease or pharmacologic traits is a critical challenge for a vast majority of the implicated susceptibility loci. Here we describe SCAN, a bioinformatics resource we have developed to elucidate the functional consequences of genetic variants identified by genome-wide scans. In particular, this public resource implements a systems biology approach to pharmacogenomic discovery.

Original languageEnglish (US)
Title of host publicationPharmacogenomics
Subtitle of host publicationMethods and Protocols
EditorsFederico Innocenti, Ron H.N. van Schaik
Pages213-224
Number of pages12
DOIs
StatePublished - 2013

Publication series

NameMethods in Molecular Biology
Volume1015
ISSN (Print)1064-3745

Keywords

  • Expression profiling
  • Genetic variation
  • Pharmacogenomics
  • SNP function
  • Transcriptome
  • eQTLs

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