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Updated: Aug 2, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Dinucleotide repeats in the Drosophila and human genomes have complex, length-dependent mutation processes
Peter Calabrese1, Rick Durrett
1University of Southern California, USA. rtd1@cornell.edu
Abstract:
We use methods of maximum likelihood estimation to fit several microsatellite mutation models to the observed length distribution of dinucletoide repeats in the Drosophila and human genomes. All simple models are rejected by this procedure. Two new models, one with quadratic and another with piecewise linear slippage rates, have the best fits and agree with recent experimental studies by predicting that long microsatellites have a bias toward contractions.
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