Tandem repeats in human genome

Tandem repeats form about 3% of the human genome and are thought to play a role in important phenomena such as chromosome fragility and rapid morphological changes. In our work, we have developed techniques for estimating the number of tandem duplications and point mutations that generate a given tandem repeat sequence. You can read more about our method in our paper Estimating Mutation Rates and Sequence Age under a Stochastic Model for Tandem Duplication and Point Mutation.

The graph below shows the relationship between the length of the repeated pattern and the mutations of each type for Human Chromosome 1. It clearly demonstrates that microsatellites and minisatellites have different mutation signatures. Interactively, it also shows the position of the repeat in the chromosome and its sequence. More data will be added soon.

Each point is a tandem repeat from chromosome 1. Hover over data points to see the position on chromosome and the sequence.