Informed consent is the result of tumultuous events in both the clinical and research arenas
over the last 100 years. Throughout this time, the notion of informed consent has shifted …

Purpose As whole-exome sequencing (WES) and whole-genome sequencing (WGS) move
into routine clinical practice, it is timely to review data that might inform the debate regarding …

Despite rapid technical progress and demonstrable effectiveness for some types of
diagnosis and therapy, much remains to be learned about clinical genome and exome …

The use of whole exome sequencing (WES) for diagnostics of children with rare genetic
diseases raises questions about best practices in genetic counselling. While a lot of …

While the majority of population-level genome sequencing initiatives claim to follow the
principles of informed consent, the requirements for informed consent have not been-well …

With the development of next generation sequencing, beyond identifying the cause of
manifestations that justified prescription of the test, other information with potential interest …

Data platforms represent a new paradigm for carrying out health research. In the platform
model, datasets are pooled for remote access and analysis, so novel insights for develo** …

Abstract The 100,000 Genomes Project is a hybrid clinical and research project in which
patients and parents are offered genome sequencing for cancer and rare and inherited …

Contemporary biomedical databases include a wide range of information types from various
observational and instrumental sources. Among the most important features that unite …

The rapidly declining costs and increasing speeds of whole-genome analysis mean that
genetic testing is undergoing a shift from targeted approaches to broader ones that look at …