Validation of BRCAplus variant detection on previously characterized samples.

2014-09-26T03:38:00Z (GMT) by PLOS ONE

Table illustrates representative calls from 250 accuracy samples. All mutations confirmed by Sanger or MLPA.

HET, heterozygous;

*, Stop codon; fs, frame-shift; del, deletion; dup, insertion; CNV, copy number variation.

Validation of BRCAplus variant detection on previously characterized samples.