Gould, Genevieve M <br/><br/>
Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene.  [electronic resource] 

 -  BMC medical genetics  09 2018 
 - 176 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-018-0691-9  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Cell Line, Tumor<br/>Colorectal Neoplasms, Hereditary Nonpolyposis--diagnosis<br/>Early Detection of Cancer--instrumentation<br/>Exons<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Mismatch Repair Endonuclease PMS2--analysis<br/>Neoplasm Proteins--analysis<br/>Polymerase Chain Reaction--methods<br/>Pseudogenes<br/>Sensitivity and Specificity