Next‐generation sequencing: ready for the clinics?

AN Desai, A Jere - Clinical genetics, 2012 - Wiley Online Library
Desai AN, Jere A. Next‐generation sequencing: ready for the clinics? Next‐generation
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …

Reference standards for next-generation sequencing

SA Hardwick, IW Deveson, TR Mercer - Nature Reviews Genetics, 2017 - nature.com
Next-generation sequencing (NGS) provides a broad investigation of the genome, and it is
being readily applied for the diagnosis of disease-associated genetic features. However, the …

[HTML][HTML] Guidelines for diagnostic next-generation sequencing

G Matthijs, E Souche, M Alders, A Corveleyn… - European Journal of …, 2016 - nature.com
We present, on behalf of EuroGentest and the European Society of Human Genetics,
guidelines for the evaluation and validation of next-generation sequencing (NGS) …

A genetic counselor's guide to using next‐generation sequencing in clinical practice

FM Facio, K Lee, JM O'daniel - Journal of genetic counseling, 2014 - Wiley Online Library
Advances in next‐generation sequencing (NGS) and rapid reductions in cost have
increased the use of such technologies in research and clinical practice. However, many …

[HTML][HTML] Next generation sequencing and the future of genetic diagnosis

K Lohmann, C Klein - Neurotherapeutics, 2014 - Elsevier
The introduction of next generation sequencing (NGS) has led to an exponential increase of
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …

Next-generation sequencing in the clinic: promises and challenges

J Xuan, Y Yu, T Qing, L Guo, L Shi - Cancer letters, 2013 - Elsevier
The advent of next generation sequencing (NGS) technologies has revolutionized the field
of genomics, enabling fast and cost-effective generation of genome-scale sequence data …

Clinical validation of targeted next-generation sequencing for inherited disorders

S Yohe, A Hauge, K Bunjer… - … of Pathology and …, 2015 - meridian.allenpress.com
Context Although next-generation sequencing (NGS) can revolutionize molecular
diagnostics, several hurdles remain in the implementation of this technology in clinical …

Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics

R Pereira, J Oliveira, M Sousa - Journal of clinical medicine, 2020 - mdpi.com
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges

TJ De Koning, JDH Jongbloed… - Expert review of …, 2015 - Taylor & Francis
Next-generation sequencing (NGS) will soon be used for clinically heterogeneous, inherited
disorders and the increasing number of disease-causing genes reported. Diagnostic …

Review of clinical next-generation sequencing

S Yohe, B Thyagarajan - Archives of pathology & …, 2017 - meridian.allenpress.com
Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …