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Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing.

Publication ,  Journal Article
Roses, AD; Akkari, PA; Chiba-Falek, O; Lutz, MW; Gottschalk, WK; Saunders, AM; Saul, B; Sundseth, S; Burns, D
Published in: Expert Opin Drug Metab Toxicol
2016

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.

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Published In

Expert Opin Drug Metab Toxicol

DOI

EISSN

1744-7607

Publication Date

2016

Volume

12

Issue

2

Start / End Page

135 / 147

Location

England

Related Subject Headings

  • Prognosis
  • Polymorphism, Single Nucleotide
  • Phylogeny
  • Pharmacology & Pharmacy
  • Parkinson Disease
  • Microsatellite Repeats
  • Lewy Body Disease
  • Humans
  • Genome-Wide Association Study
  • Genetic Variation
 

Citation

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MLA
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Roses, A. D., Akkari, P. A., Chiba-Falek, O., Lutz, M. W., Gottschalk, W. K., Saunders, A. M., … Burns, D. (2016). Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing. Expert Opin Drug Metab Toxicol, 12(2), 135–147. https://doi.org/10.1517/17425255.2016.1133586
Roses, Allen D., P Anthony Akkari, Ornit Chiba-Falek, Michael W. Lutz, William Kirby Gottschalk, Ann Marie Saunders, Bob Saul, Scott Sundseth, and Daniel Burns. “Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing.Expert Opin Drug Metab Toxicol 12, no. 2 (2016): 135–47. https://doi.org/10.1517/17425255.2016.1133586.
Roses AD, Akkari PA, Chiba-Falek O, Lutz MW, Gottschalk WK, Saunders AM, et al. Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing. Expert Opin Drug Metab Toxicol. 2016;12(2):135–47.
Roses, Allen D., et al. “Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing.Expert Opin Drug Metab Toxicol, vol. 12, no. 2, 2016, pp. 135–47. Pubmed, doi:10.1517/17425255.2016.1133586.
Roses AD, Akkari PA, Chiba-Falek O, Lutz MW, Gottschalk WK, Saunders AM, Saul B, Sundseth S, Burns D. Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing. Expert Opin Drug Metab Toxicol. 2016;12(2):135–147.

Published In

Expert Opin Drug Metab Toxicol

DOI

EISSN

1744-7607

Publication Date

2016

Volume

12

Issue

2

Start / End Page

135 / 147

Location

England

Related Subject Headings

  • Prognosis
  • Polymorphism, Single Nucleotide
  • Phylogeny
  • Pharmacology & Pharmacy
  • Parkinson Disease
  • Microsatellite Repeats
  • Lewy Body Disease
  • Humans
  • Genome-Wide Association Study
  • Genetic Variation