Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

Autor: Vyne, van der Schoot, Lonneke, Haer-Wigman, Ilse, Feenstra, Femke, Tammer, Anke J M, Oerlemans, Martine P A, van Koolwijk, Frans, van Agt, Yvonne H J M, Arens, Han G, Brunner, Lisenka E L M, Vissers, Helger G, Yntema

Publikováno v: European journal of human genetics : EJHG. 30(2)

Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical practice remain largely unexplored. We here evaluated UFs identified during

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1cbd72357922ca8f0eb0b9df2187127c
https://pubmed.ncbi.nlm.nih.gov/34697415

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

Autor: Frans van Agt, Ilse Feenstra, Femke Tammer, Helger G. Yntema, Han G. Brunner, Anke J M Oerlemans, Lonneke Haer-Wigman, Lisenka E.L.M. Vissers, Martine P A van Koolwijk, Vyne van der Schoot, Yvonne Arens

Publikováno v: European Journal of Human Genetics, 30(2), 170-177. Nature Publishing Group
European Journal of Human Genetics, 30, 170-177
European Journal of Human Genetics, 30, 2, pp. 170-177

Contains fulltext : 248380.pdf (Publisher’s version ) (Open Access) Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical pract

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1963aedb7615fb382e81d12621f3672d