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Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas

Purpose: Exome sequencing (ES) could detect pathogenic variants that are unrelated to the test indication, including findings that may have an impact for patients considering conception/reproduction (reproduction-related findings [RRFs]), deliberately searched secondary findings (SFs), and incidenta...

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Furkejuvvon:
Váldodahkkit: Lina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, Michal Levy, Gabriel A. Lidzbarsky, Nurit A. Batzir, Marina Lifshitc-Kalis, Sarit Farage-Barhom, Gali Abel, Mayra Petasny, Dana Brabbing-Goldstein, Avi Fellner, Lily Bazak
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Elsevier 2023-01-01
Ráidu:Genetics in Medicine Open
Fáttát:
Exome sequencing
Incidental findings
Medically actionable findings
Reproduction related findings
Secondary findings
Liŋkkat:http://www.sciencedirect.com/science/article/pii/S2949774423008221
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