ACMG clinical laboratory standards for next-generation sequencing

HL Rehm, SJ Bale, P Bayrak-Toydemir, JS Berg… - Genetics in …, 2013 - nature.com
Next-generation sequencing technologies have been and continue to be deployed in
clinical laboratories, enabling rapid transformations in genomic medicine. These …

Next-generation sequencing in the clinic: are we ready?

LG Biesecker, W Burke, I Kohane, SE Plon… - Nature Reviews …, 2012 - nature.com
We are entering an era in which the cost of clinical whole-genome and targeted sequencing
tests is no longer prohibitive to their application. However, currently the infrastructure is not …

[HTML][HTML] Next generation sequencing for clinical diagnostics: five year experience of an academic laboratory

P Hartman, K Beckman, K Silverstein, S Yohe… - Molecular genetics and …, 2019 - Elsevier
Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for
the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and …

Best Practice Guidelines for the Use of Next‐Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of D utch G enome D …

MM Weiss, B Van der Zwaag, JDH Jongbloed… - Human …, 2013 - Wiley Online Library
Next‐generation sequencing (NGS) methods are being adopted by genome diagnostics
laboratories worldwide. However, implementing NGS‐based tests according to diagnostic …

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 …

Reference standards for next-generation sequencing

SA Hardwick, IW Deveson, TR Mercer - Nature Reviews Genetics, 2017 - nature.com
Next-generation sequencing (NGS) provides a broad investigation of the genome, and it is
being readily applied for the diagnosis of disease-associated genetic features. However, the …

[HTML][HTML] Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical …

C Rehder, LJH Bean, D Bick, E Chao, W Chung… - Genetics in …, 2021 - Elsevier
Next-generation sequencing (NGS) technologies are now established in clinical laboratories
as a primary testing modality in genomic medicine. These technologies have reduced the …

Next-generation sequencing to diagnose suspected genetic disorders

DR Adams, CM Eng - New England Journal of Medicine, 2018 - Mass Medical Soc
Clinical Next-Generation Sequencing—A Wild Frontier The technologies and chemistries
underlying next-generation sequencing of DNA are evolving rapidly. This review describes …

Genomic sequencing in clinical practice: applications, challenges, and opportunities

JB Krier, SS Kalia, RC Green - Dialogues in clinical neuroscience, 2016 - Taylor & Francis
The development of massively parallel sequencing (or next-generation sequencing) has
facilitated a rapid implementation of genomic sequencing in clinical medicine. Genomic …

[PDF][PDF] Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine

RC Green, KAB Goddard, GP Jarvik… - The American Journal of …, 2016 - cell.com
Despite rapid technical progress and demonstrable effectiveness for some types of
diagnosis and therapy, much remains to be learned about clinical genome and exome …