Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

Abstract Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the tumor suppressor gene APC. Confirmation of diagnosis was not achieved by cancer gene panel and exome sequencing or custom array-CGH in a family with suspected FAP across five generations. Long-read genome...

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Main Authors: Alexandra A. Baumann, Lisanne I. Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J. Widmann, Marcus Franke, Karl Hackmann, Sylke Winkler, Daniela Richter, Isabel Spier, Stefan Aretz, Daniela Aust, Joseph Porrmann, Doreen William, Evelin Schröck, Hanno Glimm, Arne Jahn
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00485-5
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