Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

SF Kingsmore, CJ Saunders - Science translational medicine, 2011 - science.org
Next-generation sequencing technologies have greatly lowered the cost of whole-genome
sequencing (WGS) and related approaches. Thus, comprehensive sequencing for …

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

CR Marshall, D Bick, JW Belmont, SL Taylor, E Ashley… - Genome medicine, 2020 - Springer
Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with
rare disease. However, there are barriers to its widespread adoption, including a lack of …

Sequencing set to alter clinical landscape

EC Hayden - Nature, 2012 - nature.com
Sequencing a patient's complete genome can cost as little as tests that target specific genes,
and in a handful of cases it has led to a life-changing diagnosis. No wonder the technology …

Whole-genome sequencing: a step closer to personalized medicine

B Pasche, D Absher - JAMA, 2011 - jamanetwork.com
THE PAST 60 YEARS HAVE WITNESSED REMARKABLE progress in genetics and
genomics from the descrip-tion of the DNA double helix by Watson and Crick1 to the release …

Clinical genome sequencing

RC Green, HL Rehm, IS Kohane - Genomic and personalized …, 2012 - books.google.com
The completion of the first draft of the Human Genome Project in 2001, and subsequent
refinements since then, have stimulated an explosion of research about the human genome …

Whole-genome sequencing: the new standard of care?

LR Brunham, MR Hayden - Science, 2012 - science.org
Rapid advances in DNA sequencing technology have made whole-genome sequencing
(WGS) both technically and economically feasible. WGS has been used with great effect in …

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 …

Genomics in clinical practice: lessons from the front lines

HJ Jacob, K Abrams, DP Bick, K Brodie… - Science translational …, 2013 - science.org
The price of whole-genome and-exome sequencing has fallen to the point where these
methods can be applied to clinical medicine. Here, we outline the lessons we have learned …

implementing whole genome sequencing (WGS) in clinical practice: advantages, challenges, and future perspectives

P Brlek, L Bulić, M Bračić, P Projić, V Škaro, N Shah… - Cells, 2024 - mdpi.com
The integration of whole genome sequencing (WGS) into all aspects of modern medicine
represents the next step in the evolution of healthcare. Using this technology, scientists and …

[HTML][HTML] Whole-genome sequencing breaks the cost barrier

L Bonetta - Cell, 2010 - cell.com
Whole-Genome Sequencing Breaks the Cost Barrier: Cell Skip to Main Content Advertisement
Cell This journal offers authors two options (open access or subscription) to publish research …