Gene discovery has been one of the most important advances in our understanding of
human disorders. Early linkage and positional cloning strategies have now given way to …

Whole-genome sequencing (WGS) is being applied within research settings across Europe
to develop genomic WGS-based diagnostic tests. The focus of this perspective paper is to …

With the declining cost of sequencing and the ongoing discovery of disease genes, it is now
possible to examine hundreds of genes in a single disease-targeted test. Although exome …

Next-generation sequencing is changing the paradigm of clinical genetic testing. Today
there are numerous molecular tests available, including single-gene tests, gene panels, and …

The speed, accuracy, efficiency, and cost-effectiveness of DNA sequencing have been
improving continuously since the initial derivation of the technique in the mid-1970s. With …

Research on the use of genome and exome sequencing for diagnosis, identification of
potential therapies, precision prescribing of pharmaceuticals, and identification of disease …

Exome sequencing has been implemented in molecular diagnostic laboratories for a
decade as a first-tier test for developmental disorders. However, for some unique disease …

Next-generation sequencing technologies have greatly lowered the cost of whole-genome
sequencing (WGS) and related approaches. Thus, comprehensive sequencing for …

Next-generation sequencing (NGS) continues to push the boundaries of genomic medicine
and transform clinical genome sequencing. With the introduction of NGS assays, whole …

Translating the power of high-throughput sequencing technologies from research area into
clinical medicine is one of the major goal for several researchers and health-care providers …