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

December 03, 2024

Florian Battke 1, Martin Schulze 2, Björn Schulte 2

Abstract

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.

Keywords: Genetic Diagnostics; Whole-exome sequencing; WES; Whole-genome sequencing; WGS; Diagnostic Yield.

  1. CeGaT GmbH, Tübingen, Germany.
  2. Zentrum für Humangenetik Tübingen, Tübingen, Germany