Eisenberger, Tobias <br/><br/>
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.  [electronic resource] 

 -  PloS one  2013 
 - e78496 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1932-6203 
<br/><br/><label>Standard No.: </label>10.1371/journal.pone.0078496  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>DNA Copy Number Variations<br/>Exons--genetics<br/>Female<br/>Heterozygote<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Male<br/>Middle Aged<br/>Mutation<br/>Pedigree<br/>Retinal Dystrophies--diagnosis<br/>Sequence Analysis, DNA<br/>Young Adult