Sanger sequencing validation and cDNA sequence analysis supporting "A Diagnostics RNA Sequencing Assay for Direct Identification and Interpretation of Pathogenic Variants in the FBN1 Gene
Description
This dataset contains raw and Sanger sequencing data generated for the validation of genetic variants and for cDNA sequence analysis described in the associated manuscript submitted to Frontiers in Molecular Biosciences. The dataset includes: - Raw chromatogram files (.ab1) from forward and reverse sequencing reactions. - qPCR raw data utilised for FBN1-Relative gene expression - README file detailing file organization and naming. The data were generated using standard Sanger sequencing protocols and analyzed using tools such as Chromas, and BioEdit for sequence quality assessment and consensus sequence generation. The data are provided under an embargo until the related article is published. Access can be granted upon reasonable request during the review process.
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Steps to reproduce
The data were generated using standard Sanger sequencing protocols and analyzed using tools such as BioEdit for sequence quality assessment and consensus sequence generation. This study introduces an alternative sensitive, comprehensive, rapid, and cost-effective assay for genetic screening for MFS using whole blood RNA. This assay enables successful amplification and sequencing of the entire FBN1 coding region, even though FBN1 is lowly express
Institutions
- United Arab Emirates University