Variants that get straight to your heart – Cardiogenetic secondary findings in exome sequencing
As demonstrated in our study, at least one or two out of one hundred people are likely to carry a pathogenic cardiogenetic variant. Counselling geneticist and clinicians need to be aware of these findings in exome and genome sequencing. Informed consent of the patient regarding the report of secondary findings should absolutely be obtained beforehand.
Authors
- Dominik S. Westphal (ORCID: https://orcid.org/0000-0003-4870-9863)
- Theresa Brunet (ORCID: https://orcid.org/0000-0002-5183-780X)
- Marjon Arens
- Julia Hoefele (ORCID: https://orcid.org/0000-0002-7917-7129)
- Elisabeth Graf (ORCID: https://orcid.org/0000-0002-1119-2285)
- Eimo Martens (ORCID: https://orcid.org/0000-0002-5801-0901)
- Juliane Winkelmann (ORCID: https://orcid.org/0000-0002-2778-9027)
- Kirsten Wenderholm
Institutions
- TUM Klinikum (DE)
Publication Details
- Journal
- Gene
- Published
- 2024-10-31
- DOI
- https://doi.org/10.1016/j.gene.2024.149063
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55