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Splicing assay of BRCA1 and BRCA2 variants using barcoded minigenes

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NIAID Data Ecosystem2026-05-02 收录
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https://zenodo.org/record/14043005
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BRCA1 and BRCA2 exons up to 120bp in size, including up to 150bp of flanking intron sequence, were inserted into the pSPL3 vector trapping system (minigene). Individual variants of interest were generated by mutagenesis. Constructs were transfected into two different breast cancer cell lines, HS578T and MDA-MB-231. Total RNA was extracted, cDNA synthesized and sequenced after construct-specific PCR. Sequenced on an Illumina MiSeq using 150bp-paired end reads. Each zip file contains the data from one MiSeq run, containing 192 samples individually barcoded. There are fasta and bam files for each barcode, in each plate.
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2024-11-12
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