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 …
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …
Reference standards for next-generation sequencing
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 …
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) …
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 …
increased the use of such technologies in research and clinical practice. However, many …
[HTML][HTML] Next generation sequencing and the future of genetic diagnosis
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 …
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …
Next-generation sequencing in the clinic: promises and challenges
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 …
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 …
diagnostics, several hurdles remain in the implementation of this technology in clinical …
Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
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 …
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 …
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 …
laboratories to test for inherited disorders and tumor mutations. This technology is new for …