Preference for secondary findings in prenatal and pediatric exome sequencing [PDF]
Prenatal Diagnosis, 2021 We aimed to determine the frequency of accepting secondary findings in families undergoing exome sequencing in prenatal and pediatric settings.
Kate Swanson +11 more
semanticscholar +3 more sources
Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings [PDF]
Europace, 2023 Aims Rare variants in the KCNQ1 gene are found in the healthy population to a much greater extent than the prevalence of Long QT Syndrome type 1 (LQTS1).
Valeria Novelli +9 more
semanticscholar +2 more sources
Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts [PDF]
Molecular Genetics & Genomic Medicine, 2023 Introduction The frequency and implications of secondary findings (SFs) from genomic testing data have been extensively researched. However, little is known about the frequency or reporting of SFs in Africans, who are underrepresented in large‐scale ...
Abimbola Oladayo +27 more
doaj +2 more sources
Secondary findings in a large Pakistani cohort tested with whole genome sequencing [PDF]
Life Sci Alliance, 2022 Testing a large Pakistani cohort with whole genome sequencing, we concluded that in countries such as Pakistan, the list of ACMG secondary findings could be expanded.
A. Skrahin +9 more
semanticscholar +2 more sources
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study [PDF]
Hum Genet, 2023 Exome and genome sequencing (ES/GS) in genetic medicine and research leads to discovering genomic secondary findings (SFs) unrelated to the purpose of the primary test.
Youngjun Kim +4 more
semanticscholar +2 more sources
Secondary Findings from Exome Sequencing of a Greek Cohort [PDF]
Current Issues in Molecular BiologyExome sequencing (ES) is an essential part in clinical diagnosis of hereditary disorders. However, ES can reveal secondary findings (SFs) in medically actionable genes that are not related to the patient’s phenotype. In this study, we performed ES to 280
Charilaos Kostoulas +5 more
doaj +2 more sources
Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population [PDF]
Molecular Genetics & Genomic MedicineBackground The identification of actionable secondary findings (SFs) through clinical exome sequencing has become increasingly relevant with the integration of genomics into routine healthcare.
Laura Grech +4 more
doaj +2 more sources
Secondary findings after multi-gene panel testing in 7,388 patients with suspected cancer predisposition syndrome [PDF]
Scientific ReportsOur study focused on the individuals’ preference for disclosure of secondary findings (SF) in hereditary cancer genes (HCG) and the frequency and type of SF after multi-gene panel testing (MGPT) in individuals with a suspected cancer predisposition ...
Eva Avsec +5 more
doaj +2 more sources
Genomic tools for health: Secondary findings as findings to be shared [PDF]
Genet Med, 2022 Purpose: Whether and how to disclose secondary finding (SF) information to children is ethically debated. Some argue that genetic testing of minors should be limited to preserve the child’s future autonomy. Others suggest that disclosure of SFs can occur
S. Miner +4 more
semanticscholar +2 more sources
Secondary findings in 421 whole exome-sequenced Chinese children [PDF]
Human Genomics, 2018 Background Variants with known or possible pathogenicity located in genes that are unrelated to primary disease conditions are defined as secondary findings.
Wen Chen +10 more
doaj +2 more sources