Article
Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing.
Expert opinion on drug metabolism & toxicology - 1 Jan 2016
Roses Allen D, Akkari P Anthony, Chiba-Falek Ornit, Lutz Michael W, Gottschalk William Kirby, Saunders Ann Marie, Saul Bob, Sundseth Scott, Burns Daniel
Abstract excerpt
INTRODUCTION: In this article we discuss several human neurological diseases and their relationship to specific highly polymorphic small structural variants (SVs). Unlike genome-wide association analysis (GWAS), this methodology is not a genome screen to define new possibly associated genes, requiring statistical corrections for a million association tests. SVs provide local mapping information at a specific...
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