A validated heart-specific model for splice-disrupting variants in childhood heart disease

A validated heart-specific model for splice-disrupting variants in childhood heart disease

Abstract Background Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the loss or creation of exon boundaries are not routine...

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Main Authors: Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain, Yijing Liang, Tanya Papaz, Jane Lougheed, Tapas Mondal, Mahmoud Alsalehi, Luis Altamirano-Diaz, Erwin Oechslin, Enrique Audain, Gregor Dombrowsky, Alex V. Postma, Odilia I. Woudstra, Berto J. Bouma, Marc-Phillip Hitz, Connie R. Bezzina, Gillian M. Blue, David S. Winlaw, Seema Mital
Format: Article
Language:English
Published: BMC 2024-10-01
Series:Genome Medicine
Subjects:
Congenital Heart Disease
Genomics
RNA splicing
Non-canonical
Machine Learning
Online Access:https://doi.org/10.1186/s13073-024-01383-8
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https://doi.org/10.1186/s13073-024-01383-8

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