High-performance sequencing in the diagnosis of monogenic diseases: Possibilities and limitations

The paper deals with the topical issues of using high-performance sequencing to diagnose monogenic diseases. The de facto method is widely used in clinical practice. The rapid development of high-performance sequencing requires that medical geneticists and pediatricians specializing in hereditary di...

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Bibliographic Details
Main Authors: L. I. Shagam, V. Yu. Voinova
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2016-04-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
Online Access:https://www.ped-perinatology.ru/jour/article/view/312