Validation of BRCAplus variant detection on previously characterized samples.

2014-09-26T03:38:00Z (GMT) by PLOS ONE
<p>Table illustrates representative calls from 250 accuracy samples. All mutations confirmed by Sanger or MLPA.</p><p>HET, heterozygous;</p><p>*, Stop codon; fs, frame-shift; del, deletion; dup, insertion; CNV, copy number variation.</p><p>Validation of BRCAplus variant detection on previously characterized samples.</p>