de Ligt, Joep <br/><br/>
Detection of clinically relevant copy number variants with whole-exome sequencing.  [electronic resource] 

 -  Human mutation  Oct 2013 
 - 1439-48 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.22387  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Algorithms<br/>DNA Copy Number Variations<br/>Exome<br/>Genetic Testing--methods<br/>Genome-Wide Association Study<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Reproducibility of Results