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Validation of BRCAplus variant detection on previously characterized samples.

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posted on 2014-09-26, 03:38 authored 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.

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