Article
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Human mutation - 1 Jul 2022
DeRoin Lia, Cavalcante de Andrade Silva Marcela, Petras Kristin, Arndt Kelly, Phillips Nathaniel, Wanjari Pankhuri, Subramanian Hari Prasanna, Montes David, McElherne James, Theissen Megan, Briese Renee, Das Soma, Godley Lucy A, Segal Jeremy, Del Gaudio Daniela, Fitzpatrick Carrie, Churpek Jane E
Abstract excerpt
To avoid acquired variants found in the blood, cultured skin fibroblasts are a recommended DNA source for germline genetic testing in patients with hematologic disorders, but data are lacking regarding practicality and limitations. We conducted a retrospective cohort study of 350 subjects with hematologic disorders who underwent skin fibroblast culture for germline genetic testing. We analyzed next-generation...
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