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 …

[HTML][HTML] Reflections on the cost of" low-cost" whole genome sequencing: framing the health policy debate

T Caulfield, J Evans, A McGuire, C McCabe… - PLoS …, 2013 - journals.plos.org
Reflections on the Cost of "Low-Cost" Whole Genome Sequencing: Framing the Health Policy
Debate | PLOS Biology Skip to main content Advertisement PLOS Biology Browse Current …

Next generation sequencing—implications for clinical practice

E Raffan, RK Semple - British medical bulletin, 2011 - academic.oup.com
Background Genetic testing in inherited disease has traditionally relied upon recognition of
the presenting clinical syndrome and targeted analysis of genes known to be linked to that …

Whole genome sequencing and its applications in medical genetics

J Wu, M Wu, T Chen, R Jiang - Quantitative Biology, 2016 - Wiley Online Library
Fundamental improvement was made for genome sequencing since the next‐generation
sequencing (NGS) came out in the 2000s. The newer technologies make use of the power of …

Whole genome sequencing: a considered approach to clinical implementation

D Dimmock - Current Protocols in Human Genetics, 2013 - Wiley Online Library
The recent entry of “whole” exome/“whole” genome sequencing into limited clinical practice
has led to a progression of the availability of genome‐scale testing beyond …

Clinical utility of genomic sequencing

MB Neu, KM Bowling, GM Cooper - Current opinion in pediatrics, 2019 - journals.lww.com
Genomic sequencing is a powerful and increasingly cost-effective alternative to current
genetic tests and will continue to grow in clinical utility as more of the genome is understood …

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 …

Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer

B Royer-Bertrand, C Rivolta - Cellular and Molecular Life Sciences, 2015 - Springer
The past decade has seen the emergence of next-generation sequencing (NGS)
technologies, which have revolutionized the field of human molecular genetics. With NGS …

What can exome sequencing do for you?

J Majewski, J Schwartzentruber, E Lalonde… - Journal of medical …, 2011 - jmg.bmj.com
Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …

Analysis and annotation of whole‐genome or whole‐exome sequencing derived variants for clinical diagnosis

EA Worthey - Current protocols in human genetics, 2017 - Wiley Online Library
Over the last 10 years, next‐generation sequencing (NGS) has transformed genomic
research through substantial advances in technology and reduction in the cost of …