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.
Groznova, Olga; Dlin, Vladimir; Shagam, Levet al.
2015 • In Rossijskij Vestnik Perinatologii i Pediatrii
Shagam, Lev ; Université de Liège - ULiège > Medical Genomics-Unit of Animal Genomics
Shentseva, Daria
Konkova, Natalia
Language :
English
Title :
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.
