Recent advances in next‐generation sequencing (NGS) have given rise to new challenges
due to the difficulties in variant pathogenicity interpretation and large dataset management …

Objectives: To compare next-generation sequencing (NGS) platforms with mutation-specific
analysis platforms in a clinical setting, in terms of sensitivity, mutation specificity, costs …

Over the last decade next generation sequencing (NGS) has been extensively used to
identify new pathogenic mutations and genes causing rare genetic diseases. The efficient …

Next‐generation sequencing (NGS) has become a powerful and efficient tool for routine
mutation screening in clinical research. As each NGS test yields hundreds of variants, the …

With the exponential reduction of the cost of next‐generation sequencing (NGS), it is no
longer the generation of data but the analysis and interpretation of massive amounts of …

Next-Generation Sequencing has become an important tool in the field of human genetics.
The coding sequences of> 4,500 samples have been sequenced in the course of this PhD …

Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …

Next‐generation sequencing (NGS) technologies have revolutionized the field of genetics
and are trending toward clinical diagnostics. Exome and targeted sequencing in a disease …

Next‐generation sequencing (NGS) has significantly contributed to the transformation of
genomic research by providing access to the genome for analysis, by significantly …

Context Although next-generation sequencing (NGS) can revolutionize molecular
diagnostics, several hurdles remain in the implementation of this technology in clinical …