Diagnostic value of partial exome sequencing in developmental disorders
L Gieldon, L Mackenroth, AK Kahlert, JR Lemke… - PLoS one, 2018 - journals.plos.org
Although intellectual disability is one of the major indications for genetic counselling, there
are no homogenous diagnostic algorithms for molecular testing. While whole exome …
are no homogenous diagnostic algorithms for molecular testing. While whole exome …
Impact of integrated translational research on clinical exome sequencing
Purpose Exome sequencing often identifies pathogenic genetic variants in patients with
undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance …
undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance …
Coming of age: ten years of next-generation sequencing technologies
Since the completion of the human genome project in 2003, extraordinary progress has
been made in genome sequencing technologies, which has led to a decreased cost per …
been made in genome sequencing technologies, which has led to a decreased cost per …
ACMG SF v3. 0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and …
Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …
test, whether or not it is in conformance with this statement. Clinicians also are advised to …
implementing whole genome sequencing (WGS) in clinical practice: advantages, challenges, and future perspectives
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 …
represents the next step in the evolution of healthcare. Using this technology, scientists and …
The usefulness of whole-exome sequencing in routine clinical practice
A Iglesias, K Anyane-Yeboa, J Wynn, A Wilson… - Genetics in …, 2014 - nature.com
Purpose: Reports of the use of whole-exome sequencing in clinical practice are limited. We
report our experience with whole-exome sequencing in 115 patients in a single center and …
report our experience with whole-exome sequencing in 115 patients in a single center and …
Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views
Background Whole-exome sequencing (WES) consists in the capture, sequencing and
analysis of all exons in the human genome. Originally developed in the research context …
analysis of all exons in the human genome. Originally developed in the research context …
Performance comparison of exome DNA sequencing technologies
Whole exome sequencing by high-throughput sequencing of target-enriched genomic DNA
(exome-seq) has become common in basic and translational research as a means of …
(exome-seq) has become common in basic and translational research as a means of …
[HTML][HTML] Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project
LG Biesecker - Genetics in Medicine, 2012 - Elsevier
Purpose The debate surrounding the return of results from high-throughput genomic
interrogation encompasses many important issues including ethics, law, economics, and …
interrogation encompasses many important issues including ethics, law, economics, and …
Human genome sequencing in health and disease
C Gonzaga-Jauregui, JR Lupski… - Annual review of …, 2012 - annualreviews.org
Following the “finished,” euchromatic, haploid human reference genome sequence, the
rapid development of novel, faster, and cheaper sequencing technologies is making …
rapid development of novel, faster, and cheaper sequencing technologies is making …