A validated heart-specific model for splice-disrupting variants in childhood heart disease
A new cardiac-specific in silico model was developed using complementary GS and RNA-Seq data that improved genetic yield by identifying a significant burden of non-canonical splice variants associated with CHD that would not be detectable through panel or exome sequencing.
Authors
- David S. Winlaw (ORCID: https://orcid.org/0000-0001-8005-3361)
- Nour Hanafi (ORCID: https://orcid.org/0000-0003-2922-705X)
- Tapas Mondal (ORCID: https://orcid.org/0000-0003-2077-1710)
- Connie R. Bezzina (ORCID: https://orcid.org/0000-0002-0633-3514)
- Jeroen Breckpot (ORCID: https://orcid.org/0000-0002-0734-5154)
- Gillian M. Blue (ORCID: https://orcid.org/0000-0002-1480-9535)
- Berto J. Bouma (ORCID: https://orcid.org/0000-0002-1433-9692)
- Tanya Papaz (ORCID: https://orcid.org/0000-0001-7904-2868)
- Erwin Notker Oechslin (ORCID: https://orcid.org/0000-0001-7084-8494)
- Marc‐Phillip Hitz (ORCID: https://orcid.org/0000-0001-9894-6897)
- Odilia I. Woudstra (ORCID: https://orcid.org/0000-0003-4255-1401)
- Gregor Dombrowsky (ORCID: https://orcid.org/0000-0003-2591-2682)
- Jade Bouwmeester (ORCID: https://orcid.org/0000-0003-0930-1857)
- Mahmoud Alsalehi (ORCID: https://orcid.org/0000-0002-8114-326X)
- Alex V. Postma (ORCID: https://orcid.org/0000-0003-4874-2487)
- Seema R. Mital (ORCID: https://orcid.org/0000-0002-7643-4484)
- Robert Lesurf (ORCID: https://orcid.org/0000-0001-7095-1491)
- Luis Altamirano‐Diaz (ORCID: https://orcid.org/0000-0001-9416-1670)
- Enrique Audain (ORCID: https://orcid.org/0000-0002-9201-7840)
- Yijing Liang (ORCID: https://orcid.org/0009-0005-8010-5308)
- Jane Lougheed (ORCID: https://orcid.org/0000-0003-3714-1301)
- Anjali Jain (ORCID: https://orcid.org/0000-0001-6865-8632)
Institutions
- Northwestern University (US)
- Lurie Children's Hospital (US)
- The University of Sydney (AU)
- Carl von Ossietzky Universität Oldenburg (DE)
- University Health Network (CA)
- University of Toronto (CA)
- Children's Hospital of Eastern Ontario (CA)
- London Health Sciences Centre (CA)
- Hospital for Sick Children (CA)
- McMaster Children's Hospital (CA)
- Children's Hospital at Westmead (AU)
- Ted Rogers Centre for Heart Research (CA)
- University Hospital Schleswig-Holstein (DE)
- German Centre for Cardiovascular Research (DE)
- SickKids Foundation (CA)
- Amsterdam University Medical Centers (NL)
- Kingston Health Sciences Centre (CA)
- University of Lübeck (DE)
Publication Details
- Journal
- Genome Medicine
- Published
- 2024-10-14
- DOI
- https://doi.org/10.1186/s13073-024-01383-8
- Citations
- 5
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.17
Funders
- Wellcome Trust
- European Bioinformatics Institute
- National Heart Foundation of Australia
- Hospital for Sick Children
- Alliance de recherche numérique du Canada
- Canadian Institutes of Health Research