High-performance sequencing in the diagnosis of monogenic diseases: Possibilities and limitations
https://doi.org/10.21508/1027-4065-2016-61-2-105-109
Abstract
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 diseases should understand its possibilities and limitations, choose a strategy for diagnosis in each specific patient, and competently interpret the obtained results.
About the Authors
L. I. Shagam
Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation
Russian Federation
Moscow
Russian Federation
Moscow
V. Yu. Voinova
Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation
Russian Federation
Moscow
Russian Federation
Moscow
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Review
For citations:
Shagam L.I., Voinova V.Yu. High-performance sequencing in the diagnosis of monogenic diseases: Possibilities and limitations. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2016;61(2):105-109. (In Russ.) https://doi.org/10.21508/1027-4065-2016-61-2-105-109
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