Whole Exome Sequencing

Known as: Exome Sequencing, WES, Whole-Exome Sequencing 
A procedure that can determine the DNA sequence for all of the exons in an individual.
National Institutes of Health

Papers overview

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Review
2017
Review
2017
Precision medicine is an approach that takes into account the influence of individuals' genes, environment, and lifestyle… (More)
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Review
2017
Review
2017
INTRODUCTION The Alzheimer's Disease Neuroimaging Initiative (ADNI) has continued development and standardization of… (More)
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Review
2017
Review
2017
Importance Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the… (More)
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Review
2016
Review
2016
Next-generation sequencing (NGS) is a rapidly evolving set of technologies that can be used to determine the sequence of an… (More)
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Highly Cited
2014
Highly Cited
2014
IMPORTANCE Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic… (More)
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Highly Cited
2013
Highly Cited
2013
BACKGROUND Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected… (More)
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Highly Cited
2012
Highly Cited
2012
Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders… (More)
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Highly Cited
2012
Highly Cited
2012
Cancer is a disease driven by genetic variation and mutation. Exome sequencing can be utilized for discovering these variants and… (More)
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Highly Cited
2010
Highly Cited
2010
We demonstrate the first successful application of exome sequencing to discover the gene for a rare mendelian disorder of unknown… (More)
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Highly Cited
2009
Highly Cited
2009
Genome-wide association studies suggest that common genetic variants explain only a modest fraction of heritable risk for common… (More)
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