Interim results of selective screening using whole exome sequencing in newborns

Background. Evaluation of hereditary diseases is a difficult task due to the large number of nosologic forms, rare occurrence of each disease, which can lead to a long diagnostic search for the patient. Different methods of molecular genetics, including full-exome sequencing, are actively introducin...

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Autors principals: G. P. Bogonosova, O. V. Bugun, S. V. Ionushene, T. A. Astakhova, I. M. Golobkova, A. A. Dokshukina, Je. Shubina, T. A. Bairova, D. N. Degtyarev, D. Yu. Trofimov, L. V. Rychkova, N. N. Martynovich, O. G. Ivanova, M. I. Kononenko, V. O. Kolodina, N. N. Kuznetsova, M. R. Akhmedzyanova
Format: Artigo
Idioma:Russo
Publicat: Scientific Сentre for Family Health and Human Reproduction Problems 2025-03-01
Col·lecció:Acta Biomedica Scientifica
Matèries:
whole-exome sequencing
neonatal screening
hereditary disease
exome
newborns
Accés en línia:https://www.actabiomedica.ru/jour/article/view/5213
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