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 …
[HTML][HTML] Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities
C Di Resta, S Galbiati, P Carrera, M Ferrari - Ejifcc, 2018 - ncbi.nlm.nih.gov
The rapid evolution and widespread use of next generation sequencing (NGS) in clinical
laboratories has allowed an incredible progress in the genetic diagnostics of several …
laboratories has allowed an incredible progress in the genetic diagnostics of several …
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 …
The impact of next-generation sequencing on genomics
J Zhang, R Chiodini, A Badr, G Zhang - Journal of genetics and genomics, 2011 - Elsevier
This article reviews basic concepts, general applications, and the potential impact of next-
generation sequencing (NGS) technologies on genomics, with particular reference to …
generation sequencing (NGS) technologies on genomics, with particular reference to …
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 …
Bioinformatics for clinical next generation sequencing
BACKGROUND Next generation sequencing (NGS)-based assays continue to redefine the
field of genetic testing. Owing to the complexity of the data, bioinformatics has become a …
field of genetic testing. Owing to the complexity of the data, bioinformatics has become a …
Bioinformatics for next generation sequencing data
The emergence of next-generation sequencing (NGS) platforms imposes increasing
demands on statistical methods and bioinformatic tools for the analysis and the …
demands on statistical methods and bioinformatic tools for the analysis and the …
implementing whole genome sequencing (WGS) in clinical practice: advantages, challenges, and future perspectives
The integration of whole genome sequencing (WGS) into all aspects of modern medicine
represents the next step in the evolution of healthcare. Using this technology, scientists and …
represents the next step in the evolution of healthcare. Using this technology, scientists and …
Next-generation sequencing technology: current trends and advancements
H Satam, K Joshi, U Mangrolia, S Waghoo, G Zaidi… - Biology, 2023 - mdpi.com
Simple Summary Next-generation sequencing (NGS) is a powerful tool used in genomics
research. NGS can sequence millions of DNA fragments at once, providing detailed …
research. NGS can sequence millions of DNA fragments at once, providing detailed …
[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 …