Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing.
Journal Article (Journal Article;Review)
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 locus. Used with phylogenetic analysis, the specific association of length variants can be mapped and recognized. AREAS COVERED: This experimental strategy provides identification of DNA variants, particularly variable length Simple Sequence Repeats (SSRs or STRs or microsatellites) that provide specific local association data at the SV locus. Phylogenetic analysis that includes the specific appearance of different length SV variations can differentiate specific phenotypic risks in a population such as age of onset related to variable length polymorphisms and risk of phenotypic variations associated with several adjacent structural variations (SVs). We focus on data for three recent examples associated with Alzheimer's disease, Levy Bodies, and Parkinson's disease. EXPERT OPINION: SVs are understudied, but have led directly to mechanism of pathogenesis studies involving the regulation of gene expression. The identification of specific length polymorphisms associated with clinical disease has led to translational advances and new drug discovery.
Full Text
Duke Authors
Cited Authors
- Roses, AD; Akkari, PA; Chiba-Falek, O; Lutz, MW; Gottschalk, WK; Saunders, AM; Saul, B; Sundseth, S; Burns, D
Published Date
- 2016
Published In
Volume / Issue
- 12 / 2
Start / End Page
- 135 - 147
PubMed ID
- 26727306
Electronic International Standard Serial Number (EISSN)
- 1744-7607
Digital Object Identifier (DOI)
- 10.1517/17425255.2016.1133586
Language
- eng
Conference Location
- England