Article

What Is the Real Diagnostic Benefit of Whole-Genome Sequencing?

2024-12-03

Abstract excerpt

Genetic diagnostics uses sequencing to find causative variants for patients' phenotypes. Several recent publications have declared large increases in diagnostic yield when using whole-genome sequencing (WGS) instead of whole-exome sequencing (WES). Reanalyzing published data, we show that the yield increase is overestimated.

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Literature Corpus work: f7aede03-4890-52e3-a47c-3a1494ab41eb
DOI: 10.20944/preprints202412.0023.v1

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