Genomic profiling of two pathogenic germline truncating variants of BRCA2 confer different haploinsufficiency phenotype

Observation of the loss of heterozygosity of BRCA2

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD50000000871	Raw data FASTQ files of RNAseq (Stranded mRNA prep Ligation-Illumina on NovaSeq 6000, 100bp paired-end) & WGS (PCR Free Roche KAPA Hyper Prep Library on Illumina Novaseq 6000, 150bp paired-end) for 40 samples corresponding to the matched tumor/normal of 10 patients. Raw data FASTQ files of WGS (PCR Free Roche KAPA Hyper Prep Library on Illumina Novaseq 6000, 150bp paired-end) of the tumor of two additional patients.	Illumina HiSeq 2000 Illumina NovaSeq 6000	22