[HTML][HTML] Short tandem repeats in human exons: a target for disease mutations

BE Madsen, P Villesen, C Wiuf - BMC genomics, 2008 - bmcgenomics.biomedcentral.com
Background In recent years it has been demonstrated that structural variations, such as
indels (insertions and deletions), are common throughout the genome, but the implications
of structural variations are still not clearly understood. Long tandem repeats (eg
microsatellites or simple repeats) are known to be hypermutable (indel-rich), but are rare in
exons and only occasionally associated with diseases. Here we focus on short (imperfect) ...