Vetro, A <br/><br/>
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.  [electronic resource] 

 -  Clinical genetics  03 2018 
 - 545-556 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.13060  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>DNA Copy Number Variations<br/>Female<br/>Genetic Predisposition to Disease<br/>Genetic Testing--methods<br/>Genetic Variation<br/>Genome-Wide Association Study--methods<br/>High-Throughput Nucleotide Sequencing--methods<br/>Humans<br/>INDEL Mutation<br/>Infant<br/>Loss of Heterozygosity<br/>Male<br/>Polymorphism, Single Nucleotide<br/>Sequence Analysis, DNA<br/>Young Adult