Next‐generation sequencing: ready for the clinics?

AN Desai, A Jere - Clinical genetics, 2012 - Wiley Online Library
Desai AN, Jere A. Next‐generation sequencing: ready for the clinics? Next‐generation
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …

The contribution of genomics in the medicine of tomorrow, clinical applications and issues

B Laviolle, P Denèfle, F Gueyffier, É Bégué, P Bilbault… - Therapies, 2019 - Elsevier
Fifteen years after the completion of first human genome sequencing, the technique is
almost a commodity but there is still little evidence of its usefulness as a diagnostic …

Ethical issues in medical-sequencing research: implications of genotype–phenotype studies for individuals and populations

MW Foster, RR Sharp - Human molecular genetics, 2006 - academic.oup.com
Advances and declining costs in sequencing technology will result in increasing number of
studies with individual sequence data linked to phenotypic information, which has been …

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project

SC Sanderson, M Hill, C Patch, B Searle, C Lewis… - BMJ open, 2019 - bmjopen.bmj.com
Objectives Genome sequencing is poised to be incorporated into clinical care for diagnoses
of rare diseases and some cancers in many parts of the world. Healthcare professionals are …

Clinical versus research sequencing

Y Shevchenko, S Bale - Cold Spring …, 2016 - perspectivesinmedicine.cshlp.org
Historically, sequencing has been the key technology to assess variation in the genetic
code, and has been widely accepted in clinical diagnostics of genetic disease. The advent of …

[HTML][HTML] Whole-genome sequencing in healthy people

NM Lindor, SN Thibodeau, W Burke - Mayo Clinic Proceedings, 2017 - Elsevier
Recent technological advances have radically changed genetic testing from an expensive
and burdensome undertaking to a rapid and less costly option for many purposes. The utility …

Expanding DNA diagnostic panel testing: is more better?

EW Klee, NL Hoppman-Chaney… - Expert review of …, 2011 - Taylor & Francis
During the last 25 years, a small number of meaningful DNA-based diagnostic tests have
been available to aid in the diagnosis and subsequent treatment of heritable disorders …

The Human Genome Organisation: towards next-generation ethics

BM Knoppers, A Thorogood, R Chadwick - Genome medicine, 2013 - Springer
© 2013 BioMed Central Ltd accompanying the emergence of population genomic
sequencing technologies. This is especially true in light of genomic science's rapid …

Whole genome sequencing in clinical practice

FO Bagger, L Borgwardt, AS Jespersen… - BMC Medical …, 2024 - Springer
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

T Vrijenhoek, K Kraaijeveld, M Elferink… - European Journal of …, 2015 - nature.com
Implementation of next-generation DNA sequencing (NGS) technology into routine
diagnostic genome care requires strategic choices. Instead of theoretical discussions on the …