SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

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Authors: Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders, Sarah E. Hunt, Alexander Hoischen, Peter A.C. ’t Hoen

Journal title: BMC Genomics

Journal number: 24

Journal publisher: BioMed Central

Published year: 2023

DOI identifier: 10.1186/s12864-023-09391-5

ISSN: 1471-2164