Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

Disclosing secondary findings (SF) from genome sequencing (GS) can alert carriers to disease risk. However, evidence around variant-disease association and consequences of disclosure for individuals and healthcare services is limited. We report on the feasibility of an approach to identification of...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Ormondroyd, Elizabeth, Harper, Andrew R., Thomson, Kate L., Mackley, Michael P., Martin, Jennifer, Penkett, Christopher J., Salatino, Silvia, Stark, Hannah, Stephens, Jonathan, Watkins, Hugh
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7576165/
https://ncbi.nlm.nih.gov/pubmed/32686758
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0694-9
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