… repeat sizes for genetic loci, and we used this software to infer repeat sizes for 30 known
disease … We identified 138 individuals with risk alleles at 15 STR disease loci. We validated a …

… tandem repeats, and these are widely dispersed and highly polymorphic. Members of one
group of the simple tandem repeats, the trinucleotide repeats, … In Huntington disease alleles of …

… tandem repeats and have been most comprehensively linked to disease states, I focus on
STRs in health and disease… , if the smallest allele has n tandem repeats, then other alleles can …

… repeat expansion diseases are a group of human genetic disorders caused by long and highly
polymorphic tandem repeats. … on normal alleles are within 350 bp of the CGG-repeat tract. …

… ) in relatively long tandem repeats [15], but other types of length variations may … disease
risk. Here we focus on a class of very short tandem repeats and their contribution to disease risk. …

… Tandem repeat (TR) expansions have been implicated in dozens of genetic diseases, including
Huntington’s Disease, … We identified dozens of long repeat alleles which were confirmed …

… the primary neurological repeat expansion diseases, discuss … not be true for all repeat
expansion diseases, for example, … in C9orf72 expanded alleles [160], carrier alleles may variably …

… First, they provide a framework in which to interpret the relevance of specific STR alleles
observed in disease contexts. Population-specific per-locus allele frequencies serve as a …

… , with a recent bioinformatics analysis suggesting that short tandem repeats occur more
frequently in disease-associated genes than those not known to be associated with disease [ …

… In theory, for NRDs with this inheritance, the preferred principle would be to only target the
disease allele and not the normal allele. There are, however, arguments against this view. …