Article

Whole Genome Sequencing for the Diagnosis of Rare Disorders

2025-04-27

Abstract excerpt

<h4>Background</h4> Whole-Genome Sequencing (WGS) and Whole-Transcriptome Sequencing (WTS) have emerged as transformative tools in the diagnosis of rare diseases with complex phenotypes. These technologies enable deep analysis of the genome and RNA expression, uncovering structural, intronic, non-coding, and mitochondrial variants that traditional methods might miss, thus facilitating the understanding of gene fu...

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Literature Corpus work: fbb22ebd-afca-5b02-8c71-269deafb66f5
DOI: 10.1101/2025.04.25.25326373

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