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 …
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 …
Debate | PLOS Biology Skip to main content Advertisement PLOS Biology Browse Current …
Next generation sequencing—implications for clinical practice
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 …
the presenting clinical syndrome and targeted analysis of genes known to be linked to that …
Whole genome sequencing and its applications in medical genetics
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 …
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 …
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 …
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 …
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 …
technologies, which have revolutionized the field of human molecular genetics. With NGS …
What can exome sequencing do for you?
Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …
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 …
research through substantial advances in technology and reduction in the cost of …