[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Shagam, Lev ; Université de Liège - ULiège > Medical Genomics-Unit of Animal Genomics
Voinova, Viktoria
Language :
Russian
Title :
Next generation sequencing in the diagnosis of monogenic diseases: possibilities and restrictions.
Alternative titles :
[en] Возможности и ограничения высокопроизводительного секвенирования в диагностике моногенных заболеваний
