Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing-Derived Variants for Clinical Diagnosis

2013 ◽  
pp. 9.24.1-9.24.24 ◽  
Author(s):  
Elizabeth A. Worthey
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Diagnosis ◽  
Whole Genome ◽  
Whole Exome

Discrepancy Between Clinical Diagnosis and Whole-exome Sequencing-based Clonality Analysis of Synchronous Multiple Oral Cancers

2021 ◽  
Vol 41 (2) ◽  
pp. 1035-1040
Author(s):  
NAOTO NISHII ◽  
YOSUKE HIROTSU ◽  
NAMI KOIDA ◽  
YUKINOBU TAKAHASHI ◽  
YUKI TAKAGAWA ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Diagnosis ◽  
Oral Cancers ◽  
Whole Exome ◽  
Clonality Analysis

scholarly journals Challenges of using next generation sequencing in newborn screening

2015 ◽  
Vol 97 ◽  
Author(s):  
EYAL REINSTEIN
Keyword(s):  
Newborn Screening ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Ethical Issues ◽  
Whole Genome ◽  
Short Article ◽  
Public Health Programs ◽  
Whole Exome ◽  
Metabolic Conditions ◽  
Widespread Dissemination

SummaryWhole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of whether metabolic newborn screening should be replaced by whole-genome or whole-exome sequencing. While newborn genome sequencing can potentially increase the number of disorders identified by newborn screening, the generalization of its practice raises a number of important ethical issues. This short article argues that there are medical, psychological, ethical and economic reasons why widespread dissemination of newborn screening is still premature.

scholarly journals Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

2018 ◽  
Vol 20 (11) ◽  
pp. 1328-1333 ◽  
Author(s):  
Ahmed Alfares ◽  
Taghrid Aloraini ◽  
Lamia Al subaie ◽  
Abdulelah Alissa ◽  
Ahmed Al Qudsi ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genome Sequencing ◽  
Clinical Utility ◽  
Whole Genome ◽  
Whole Exome

Abstract 3931: Whole genome and whole exome sequencing of head and neck cancer

2011 ◽  
Author(s):  
Nicolas Stransky ◽  
Ann Marie Egloff ◽  
Aaron Tward ◽  
Daniel Auclair ◽  
Kristian Cibulskis ◽  
...  
Keyword(s):  
Head And Neck Cancer ◽  
Head And Neck ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Neck Cancer ◽  
Whole Genome ◽  
Whole Exome
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