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 …

[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 …

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 …

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 …

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 …

Bioinformatics for clinical next generation sequencing

GR Oliver, SN Hart, EW Klee - Clinical chemistry, 2015 - academic.oup.com
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 …

Bioinformatics for next generation sequencing data

A Magi, M Benelli, A Gozzini, F Girolami, F Torricelli… - Genes, 2010 - mdpi.com
The emergence of next-generation sequencing (NGS) platforms imposes increasing
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

P Brlek, L Bulić, M Bračić, P Projić, V Škaro, N Shah… - Cells, 2024 - mdpi.com
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 …

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 …

[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 …