Illumina / ExpansionHunter

A tool for estimating repeat sizes
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Motif analysis processing updates #155

Closed ctsa closed 2 years ago

ctsa commented 2 years ago

This update includes components enabling custom motif analysis that can be triggered at specific loci in the catalog. Initially it contains custom motif analysis for RFC1 to differentiate pathogenic from benign motif patterns. This is still a work in progress subject to further refinement and interface changes.

Additional changes include