scholarly journals The time for next-generation molecular genetic diagnostics in nephrology is now!

2018 ◽  
Vol 94 (2) ◽  
pp. 237-239 ◽  
Author(s):  
Peter C. Harris
Keyword(s):  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
Next Generation ◽  
Molecular Genetic Diagnostics

scholarly journals Molekuláris genetikai vizsgálatok primer immundefektusokban

2018 ◽  
Vol 159 (49) ◽  
pp. 2095-2112
Author(s):  
Melinda Erdős
Keyword(s):  
Next Generation Sequencing ◽  
Primary Immunodeficiency ◽  
Molecular Genetic ◽  
Primary Immunodeficiencies ◽  
Genetic Diagnostics ◽  
Next Generation ◽  
Advantages And Disadvantages ◽  
Whole Exome ◽  
Molecular Genetic Diagnostics ◽  
Generation Sequencing

Abstract: Next generation sequencing methods represent the latest era of molecular genetic diagnostics. After a general introduction on primary immunodeficiencies, the author summarizes the importance of molecular genetic studies, especially next generation sequencing in the diagnosis of primary immunodeficiencies. Another purpose of the manuscript is to give a brief summary on the methodological basis of next generation sequencing. The author analyzes the advantages and disadvantages of primary immunodeficiency gene-panel sequencing and whole-exome and whole-genome sequencing. Primary immunodeficiency genes and diseases recognized by next generation sequencing is also summarized. Finally, the author emphasizes the indispensability of gene level diagnostics in primary immunodeficiencies and presents the results achieved in this field in Hungary. Orv Hetil. 2018; 159(49): 2095–2112.

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

METHODS OF MOLECULAR GENETIC DIAGNOSTICS IN THE SYSTEM OF EPIDEMIOLOGICAL SURVEILLANCE IN THE HOSPITAL

2018 ◽  
Vol 13 (4) ◽  
pp. 96-99
Author(s):  
O.A. ORLOVA ◽  
M.N. ZAMYATIN ◽  
N.A. UMZUNOVA ◽  
N.N. LASHENKOVA ◽  
V.G. AKIMKIN ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Epidemiological Surveillance ◽  
Genetic Diagnostics ◽  
Molecular Genetic Diagnostics

scholarly journals Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards

2012 ◽  
Vol 36 (4) ◽  
Author(s):  
Ina Vogl ◽  
Sebastian H. Eck ◽  
Anna Benet-Pagès ◽  
Philipp A. Greif ◽  
Kaimo Hirv ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Quality Criteria ◽  
Quality Standards ◽  
Clinical Diagnostics ◽  
Genetic Diagnostics ◽  
Next Generation ◽  
High Expectations ◽  
Diagnostic Applications ◽  
Generation Sequencing

AbstractOver the past 6 years, next generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. All major NGS technology companies providing commercially available instruments (Roche 454, Illumina, Life Technologies) have recently marketed bench top sequencing instruments with lower throughput and shorter run times, thereby broadening the applications of NGS and opening the technology to the potential use for clinical diagnostics. Although the high expectations regarding the discovery of new diagnostic targets and an overall reduction of cost have been achieved, technological challenges in instrument handling, robustness of the chemistry and data analysis need to be overcome. To facilitate the implementation of NGS as a routine method in molecular diagnostics, consistent quality standards need to be developed. Here the authors give an overview of the current standards in protocols and workflows and discuss possible approaches to define quality criteria for NGS in molecular genetic diagnostics.

scholarly journals Introduction to Molecular Genetic Diagnostics / UVOD U MOLEKULARNU GENETIČU DIJAGNOSTIKU

2014 ◽  
Vol 33 (1) ◽  
pp. 3-7 ◽  
Author(s):  
Ivana Novaković ◽  
Nela Maksimović ◽  
Aleksandra Pavlović ◽  
Milena Žarković ◽  
Branislav Rovčanin ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Single Gene ◽  
Molecular Genetic ◽  
Drug Efficacy ◽  
Genetic Diagnostics ◽  
Molecular Genetic Testing ◽  
Main Method ◽  
Molecular Genetic Diagnostics ◽  
Modern Medical Practice

Summary Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.

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