Article

Combined genomic and phenotypic classification of inherited and acquired genetic disease with long-read sequencing

2025-05-09

Abstract excerpt

Current long read sequencing (LRS) platforms allow the simultaneous detection of both genetic variation and epigenetic modification, yet in most cases only genetic variation is utilised. Here we demonstrate the additional potential utility of methylation-based cell type deconvolution and outlier detection, using LRS data from two different platforms. This approach could reliably estimate the proportions of the mos...

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Literature Corpus work: 4c654dce-a295-5719-851d-55ec507a30f1
DOI: 10.1101/2025.05.08.25327265

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