A glimpse into past, present, and future DNA sequencing

M Morey, A Fernández-Marmiesse… - Molecular genetics and …, 2013 - Elsevier
Current advances in DNA sequencing technologies are dropping down sequencing cost
while increasing throughput at a pace never shown before. Past-decade great milestones …

[引用][C] Genome sequencing: What do patients think? Patient charter

A Hazelton, L Petchey - Genetic Alliance UK, 2015

Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues

N Hallowell, A Hall, C Alberg, R Zimmern - Journal of Medical Ethics, 2015 - jme.bmj.com
The introduction of new sequencing technologies whole-genome sequencing (WGS) and
whole-exome sequencing (WES) that are much less finely targeted than previous genetic …

The importance of genetic counselling in genome-wide sequencing

AM Elliott, JM Friedman - Nature Reviews Genetics, 2018 - nature.com
Genome-wide sequencing (GWS) is the most sensitive test available for detecting
pathogenic genetic variants. In line with guidelines in North America and Europe, best …

[引用][C] Imagined futures: capturing the benefits of genome sequencing for society

B Capps, R Chadwick, D Chalmers, A Clarke… - 2013 - figshare.utas.edu.au
This White Paper aims to explore the key ethical issues arising from genome sequencing in
light of the rapid advances in sequencing technology which will result in faster, more …

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY …

CA Brownstein, AH Beggs, N Homer, B Merriman… - Genome biology, 2014 - Springer
Background There is tremendous potential for genome sequencing to improve clinical
diagnosis and care once it becomes routinely accessible, but this will require formalizing …

Sequencing your genome: your future is here, but are you sure you want to know it?

N Pillar, O Isakov, N Shomron - Genetics research, 2014 - cambridge.org
Next-generation sequencing (NGS; also known as deep sequencing or ultra-high
throughput sequencing) has probably been the most important tool for genomic research …

Challenges in the clinical application of whole-genome sequencing

KE Ormond, MT Wheeler, L Hudgins, TE Klein, AJ Butte… - The Lancet, 2010 - thelancet.com
As the cost of sequencing the human genome falls, medical use of whole-genome
sequencing will rapidly advance. 1 In this Viewpoint, we consider the opportunities and …

Living laboratory: whole‐genome sequencing as a learning healthcare enterprise

M Angrist, L Jamal - Clinical Genetics, 2015 - Wiley Online Library
With the proliferation of affordable large‐scale human genomic data come profound and
vexing questions about management of such data and their clinical uncertainty. These …

Recommendations for whole genome sequencing in diagnostics for rare diseases

E Souche, S Beltran, E Brosens, JW Belmont… - European journal of …, 2022 - nature.com
In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published
by EuroGentest in order to assist laboratories in the implementation and accreditation of …