The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants.

Journal Article (Journal Article)

Short structural variants (SSVs) are short genomic variants (<50 bp) other than SNPs. It has been suggested that SSVs contribute to many human complex traits. However, high-throughput analysis of SSVs presents numerous technical challenges. In order to facilitate the discovery and assessment of SSVs, we have developed a prototype bioinformatics tool, "SSV evaluation system," which is a searchable, annotated database of SSVs in the human genome, with associated customizable scoring software that is used to evaluate and prioritize SSVs that are most likely to have significant biological effects and impact on disease risk. This new bioinformatics tool is a component in a larger strategy that we have been using to discover potentially important SSVs within candidate genomic regions that have been identified in genome-wide association studies, with the goal to prioritize potential functional/causal SSVs and focus the follow-up experiments on a relatively small list of strong candidate SSVs. We describe our strategy and discuss how we have used the SSV evaluation system to discover candidate causal variants related to complex neurodegenerative diseases. We present the SSV evaluation system as a powerful tool to guide genetic investigations aiming to uncover SSVs that underlie human complex diseases including neurodegenerative diseases in aging.

Full Text

Duke Authors

Cited Authors

  • Saul, R; Lutz, MW; Burns, DK; Roses, AD; Chiba-Falek, O

Published Date

  • September 2016

Published In

Volume / Issue

  • 37 / 9

Start / End Page

  • 877 - 883

PubMed ID

  • 27279261

Pubmed Central ID

  • PMC4983215

Electronic International Standard Serial Number (EISSN)

  • 1098-1004

Digital Object Identifier (DOI)

  • 10.1002/humu.23023


  • eng

Conference Location

  • United States