An exploratory ethnographic study of issues and concerns with whole genome sequencing

E De Cristofaro - arXiv preprint arXiv:1306.4962, 2013 - arxiv.org
Progress in Whole Genome Sequencing (WGS) will soon allow a large number of
individuals to have their genome fully sequenced. This lays the foundations to improve …

[HTML][HTML] A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

MJ Khoury, WG Feero, DA Chambers, LE Brody… - PLoS …, 2018 - journals.plos.org
A collaborative translational research framework for evaluating and implementing the
appropriate use of human genome sequencing to improve health | PLOS Medicine Skip to main …

[HTML][HTML] Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape

GJ Lyon, JP Segal - Applied & Translational Genomics, 2013 - Elsevier
Recent advances in sequencing technology are making possible the application of large-
scale genomic analyses to individualized care, both in wellness and disease. However, a …

Whole genome sequencing as a diagnostic test: challenges and opportunities

CC Chrystoja, EP Diamandis - Clinical chemistry, 2014 - academic.oup.com
BACKGROUND Extraordinary technological advances and decreases in the cost of DNA
sequencing have made the possibility of whole genome sequencing (WGS) as a highly …

[HTML][HTML] Statement on bioinformatics and capturing the benefits of genome sequencing for society

B Capps, R Chadwick, Y Joly, T Lysaght, C Mills… - Human genomics, 2019 - Springer
Abstract The HUGO Committee on Ethics, Law and Society (CELS) undertook a Working
Group exploration of the key ethical issues arising from genome sequencing in 2013. The …

Accurate whole genome sequencing as the ultimate genetic test

R Drmanac, BA Peters, GM Church, CA Reid… - Clinical …, 2015 - academic.oup.com
Featured Article: Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, et
al. Human genome sequencing using unchained base reads on selfassembling DNA …

Future perspectives of genome-scale sequencing

W Steyaert, S Callens, P Coucke, B Dermaut… - Acta Clinica …, 2018 - Taylor & Francis
Introduction: In recent decades, we witnessed a revolution in genetic technology. Some 20
years ago, analysing a single gene was quite laborious and time-consuming. In addition …

[HTML][HTML] ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

ACMG Board of Directors - Genetics in Medicine, 2015 - Elsevier
Disclaimer: These recommendations are designed primarily as an educational resource for
medical geneticists and other health-care providers to help them provide quality medical …

[HTML][HTML] Evaluation of quality assessment protocols for high throughput genome resequencing data

M Chiara, G Pavesi - Frontiers in genetics, 2017 - frontiersin.org
Large-scale initiatives aiming to recover the complete sequence of thousands of human
genomes are currently being undertaken worldwide, concurring to the generation of a …

[HTML][HTML] Reporting incidental findings in genomic scale clinical sequencing—a clinical laboratory perspective: a report of the Association for Molecular Pathology

M Hegde, S Bale, P Bayrak-Toydemir, J Gibson… - The Journal of Molecular …, 2015 - Elsevier
Advances in sequencing technologies have facilitated concurrent testing for many disorders,
and the results generated may provide information about a patient's health that is unrelated …