I am validating the screening of BRCA1 and BRCA2 genes by NGS (Ion Torrent). I would like to have more samples with pathogenic variants to compare with my samples and to confirm my validation parameters.
Hi Luciana
at SRA from NCBI (https://www.ncbi.nlm.nih.gov/sra), you'll get what you're searching for after have fixed some filters (just write BRCA in the search tool on top of the page, and choose at left exome and public data). you'll need to be registered to download.
just take care of the build of the data you'll download and the alignment protocol used to compare with your data.
fred
Dear Kirsten, Yes, I can produce or buy some positive controls for BRCA1 and BRCA2 genes as you said. But for now, I need only the .vcf/.bam files generated in NGS of unidentified samples with pathogenic variants in these both genes. I need at least 5 independent samples of each gene. Thank you for your response!!
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