Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome

Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome

Abstract Multigene panel tests (MGPTs) revolutionized the diagnosis of Lynch syndrome (LS), however noncoding pathogenic variants (PVs) can only be detected by complementary methods including whole genome sequencing (WGS). Here we present a DNA-, RNA- and tumor tissue-based WGS prioritization workfl...

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Main Authors: Klaudia Horti-Oravecz, Anikó Bozsik, Tímea Pócza, Ildikó Vereczkey, Tamás Strausz, Erika Tóth, Tatiana Sedlackova, Diana Rusnakova, Tomas Szemes, István Likó, Edit Oláh, Henriett Butz, Attila Patócs, János Papp, Vince Kornél Grolmusz
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00461-z
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