Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.


Journal Article (Review)

Structural variants (SVs) include all insertions, deletions, and rearrangements in the genome, with several common types of nucleotide repeats including single sequence repeats, short tandem repeats, and insertion-deletion length variants. Polyallelic SVs provide highly informative markers for association studies with well-phenotyped cohorts. SVs can influence gene regulation by affecting epigenetics, transcription, splicing, and/or translation. Accurate assays of polyallelic SV loci are required to define the range and allele frequency of variable length alleles.

Full Text

Cited Authors

  • Roses, AD

Published Date

  • February 2016

Published In

Volume / Issue

  • 99 / 2

Start / End Page

  • 169 - 171

PubMed ID

  • 26517180

Pubmed Central ID

  • 26517180

Electronic International Standard Serial Number (EISSN)

  • 1532-6535

International Standard Serial Number (ISSN)

  • 0009-9236

Digital Object Identifier (DOI)

  • 10.1002/cpt.288


  • eng