%0 Generic %A ONE, PLOS %D 2014 %T Validation of BRCAplus variant detection on previously characterized samples. %U https://plos.figshare.com/articles/dataset/_Validation_of_BRCAplus_variant_detection_on_previously_characterized_samples_/1185056 %R 10.1371/journal.pone.0097408.t002 %2 https://ndownloader.figshare.com/files/1694134 %K assay %K comprehensive %K correction %K diagnostic %K BRCAplu %K breast %K validation %K Clinical Implementation %X

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.

%I PLOS ONE