Article

MASTR-seq: Multiplexed Analysis of Short Tandem Repeats with sequencing

2024-05-02

Abstract excerpt

More than 60 human disorders have been linked to unstable expansion of short tandem repeat (STR) tracts. STR length and the extent of DNA methylation is linked to disease pathology and can be mosaic in a cell type-specific manner in several repeat expansion disorders. Mosaic phenomenon have been difficult to study to date due to technical bias intrinsic to repeat sequences and the need for multi-modal measurements...

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Literature Corpus work: ae39b187-fb3f-5b09-a45d-bb57f2569ba1
DOI: 10.1101/2024.04.29.591790

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