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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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
Implementation of next-generation DNA sequencing (NGS) technology into routine
diagnostic genome care requires strategic choices. Instead of theoretical discussions on the …
diagnostic genome care requires strategic choices. Instead of theoretical discussions on the …