WEScover: selection between clinical whole exome sequencing and gene panel testing

WEScover: selection between clinical whole exome sequencing and gene panel testing

Background: Whole exome sequencing (WES) is widely adopted in clinical and research settings; however, one of the practical concerns is the potential false negatives due to incomplete breadth and depth of coverage for several exons in clinically implicated genes. In some cases, a targeted gene panel...

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Bibliographic Details
Main Authors: Alvarez, W.J (Author), Hernandez-Ferrer, C. (Author), Kong, S.W (Author), Lee, I.-H (Author), Lin, Y. (Author), Mandl, K.D (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2021
Subjects:
Candidate genes
Clinical research
Coverage
exome
Exome
False negative
False negatives
Gene panel testing
Genes
Genetic testing
genetics
genomics
Genomics
high throughput sequencing
High-Throughput Nucleotide Sequencing
Intuitive user interface
Panel tests
phenotype
Phenotype
Query processing
True negative
User interfaces
WEB application
Web-based tools
whole exome sequencing
Whole exome sequencing
Whole Exome Sequencing
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