title: Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.
abstract: 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.
authors.affiliation: Joseph & Kathleen Bryan Alzheimer's Disease Research Center, Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA.
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
mesh_terms: D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics; D057890:Epigenomics; D005819:Genetic Markers / Q000235:genetics*; D005820:Genetic Testing / Q000592:standards / Q000639:trends*; D014644:Genetic Variation / Q000235:genetics*; D016678:Genome; D006801:Humans; D020961:Lewy Body Disease / Q000235:genetics
chemical_list: D005819:Genetic Markers