[PDF][PDF] Principles of genetic counseling in the era of next-generation sequencing

M Yang, JW Kim - Annals of laboratory medicine, 2018 - synapse.koreamed.org
Traditional genetic counseling has focused on the target gene and its natural progress with
respect to disease risk. Next-generation sequencing (NGS) can produce information on …

Next generation sequencing is the impetus for the next generation of laboratory-based genetic counselors

A Swanson, E Ramos, H Snyder - Journal of Genetic Counseling, 2014 - Springer
Next generation sequencing (NGS) is dramatically increasing the number of clinically
available genetic tests and thus the number of patients in which such testing may be …

A genetic counselor's guide to using next‐generation sequencing in clinical practice

FM Facio, K Lee, JM O'daniel - Journal of genetic counseling, 2014 - Wiley Online Library
Advances in next‐generation sequencing (NGS) and rapid reductions in cost have
increased the use of such technologies in research and clinical practice. However, many …

A taxonomy of medical uncertainties in clinical genome sequencing

PKJ Han, KL Umstead, BA Bernhardt, RC Green… - Genetics in …, 2017 - nature.com
Purpose: Clinical next-generation sequencing (CNGS) is introducing new opportunities and
challenges into the practice of medicine. Simultaneously, these technologies are generating …

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 …

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 …

[图书][B] Clinical genomics

S Kulkarni, S Roy - 2014 - books.google.com
Clinical Genomics provides an overview of the various next-generation sequencing (NGS)
technologies that are currently used in clinical diagnostic laboratories. It presents key …

Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho) social implications

MA van der Geest, ELM Maeckelberghe… - European Journal of …, 2024 - nature.com
With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers
of disease-associated variants are being identified. This ongoing progress might lead to …

On the future of genetic risk assessment

HH Ropers - Journal of community genetics, 2012 - Springer
Next-generation sequencing (NGS) techniques have greatly accelerated the molecular
elucidation of Mendelian disorders, and affordable NGS-based diagnostic tests are around …

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 …