Article (Scientific journals)
Next generation sequencing in the diagnosis of monogenic diseases: possibilities and restrictions.
Shagam, Lev; Voinova, Viktoria
2016In Rossijskij Vestnik Perinatologii i Pediatrii
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Abstract :
[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
Publication date :
2016
Journal title :
Rossijskij Vestnik Perinatologii i Pediatrii
ISSN :
1027-4065
eISSN :
2500-2228
Publisher :
Meditsina, Moscow, Russia
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 27 May 2019

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