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Updated: Aug 18, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
Microsatellite and trinucleotide-repeat evolution: evidence for mutational bias and different rates of evolution in
D C Rubinsztein1, B Amos, G Cooper
1Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrooke's Hospital, UK. dcr1000@cus.cam.ac.uk
Abstract:
Microsatellites are stretches of repetitive DNA, where individual repeat units comprise one to six bases. These sequences are often highly polymorphic with respect to repeat number and include trinucleotide repeats, which are abnormally expanded in a number of diseases. It has been widely assumed that microsatellite loci are as likely to gain and lose repeats when they mutate. In this review, we present population genetic and empirical data arguing that microsatellites, including normal alleles at trinucleotide-repeat disease loci, are more likely to expand in length when they mutate. In addition, our experiments suggest that the rates of expansion of such sequences differ in related species.
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