Article

Utanos: A general-purpose shallow whole-genome sequencing analysis workflow identifies interpretable copy number signatures

2026-07-27

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Summary</h4> A modular FASTQ-to-figures solution for analyzing low-depth or ‘shallow’ whole-genome sequencing (sWGS) data. Shallow WGS can be used to detect copy number (CN) aberrations, Homologous Recombination Deficiency (HRD), and to detect and create CN signatures. Growing in popularity, this sequencing type is used for neonatal diagnostics and studying cancer. One of the major benefits...

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Literature Corpus work: 32809f4d-f434-5f85-93cf-b3887bdbc888
DOI: 10.64898/2026.07.22.739009

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