scholarly journals Application of Next Generation Sequencing Upon the Molecular Genetic Diagnosis of Deafness

2012 ◽  
Vol 16 (1) ◽  
pp. 1
Author(s):  
Byung Yoon Choi ◽  
Bong Jik Kim
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Molecular Genetic Diagnosis ◽  
Generation Sequencing

Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants

2020 ◽  
Vol 83 ◽  
pp. 102423 ◽  
Author(s):  
Laura Villarreal-Martínez ◽  
Marisol Ibarra-Ramirez ◽  
Geovana Calvo-Anguiano ◽  
José de Jesús Lugo-Trampe ◽  
Hilda Luna-Záizar ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Novel Variants ◽  
Molecular Genetic Diagnosis ◽  
Generation Sequencing ◽  
Mexican Patients

scholarly journals The H-syndrome and next generation sequencing for molecular genetic diagnosis

2014 ◽  
Author(s):  
Nihal Thomas ◽  
D M Mahesh ◽  
Aaron Chapla ◽  
H S Asha ◽  
Shrinath Shetty ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Molecular Genetic Diagnosis ◽  
Generation Sequencing

scholarly journals Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Saoud Al-Khuzaei ◽  
Karl A. Z. Hudspith ◽  
Suzanne Broadgate ◽  
Morag E. Shanks ◽  
Penny Clouston ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Age At Onset ◽  
Genetic Diagnosis ◽  
Heterozygous Mutation ◽  
Macular Dystrophy ◽  
Sequence Variant ◽  
Next Generation ◽  
Stargardt Disease ◽  
Generation Sequencing

Abstract Background We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX. Case presentation A 43-year-old female with bull’s eye maculopathy, whose sister was diagnosed with Stargardt disease previously at another centre, was found to have a single ABCA4 variant. Further examination of the family revealed that the asymptomatic father was also affected, indicating a dominant pattern of inheritance. In addition, the ABCA4 variant was not identified in the sister originally diagnosed with Stargardt disease. Next generation sequencing identified a heterozygous c.121C > T, p.R41W missense mutation in CRX in all 3 affected members. Conclusions We describe a common phenotype, but with variable age at onset, with autosomal dominant inheritance and reduced penetrance in a family found to have a pathogenic sequence variant in CRX. This illustrates the importance of panel based molecular genetic testing accompanied by family studies to establish a definitive diagnosis.

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.

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