Ontology highlight
ABSTRACT:
SUBMITTER: Codina-Sola M
PROVIDER: S-EPMC9905470 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
Codina-Solà Marta M Trujillano Laura L Abulí Anna A Rovira-Moreno Eulàlia E Muñoz-Cabello Patricia P Campos Berta B Fernández-Álvarez Paula P Palau Dolors D Carrasco Estela E Valenzuela Irene I Cueto-González Anna Maria AM Lasa-Aranzasti Amaia A Limeres Javier J Leno-Colorado Jordi J Costa-Roger Mar M Moles-Fernández Alejandro A Balmaña Judith J Díez Orland O Cuscó Ivon I Garcia-Arumí Elena E Tizzano Eduardo Fidel EF
European journal of human genetics : EJHG 20221129 2
Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in participants in a clinical setting and factors influencing their decision are virtually non-existant in Europe. In this work, we report the acceptance rate of SFs, calculate their prevalence and study factors associated with the decision in a cohort of patients affected with a rare genetic disorder in a Spanish Hospi ...[more]