caspargross / expander

Identify and characterize repeat expansions in long read data

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Expander: Repeat expansion analysis

Expander runs repeat expansion analysis and characterisation steps on Nanopore and PacBio long reads.

Flowchart

Development status

Still under active development and tailored to the data structure used in our institute.

This pipeline has been tested with ONT and PacBio reads. De novo identification without target regions should work but probably takes very long.

Other usefull resources

Noise Cancelling Repeat Finder : Alignment of long reads to reference ULTRA : Replacement for TRF, modern development, check Performance

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Identify and characterize repeat expansions in long read data


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