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- W2951273958 abstract "The filaggrin gene (FLG) is essential for skin differentiation and epidermal barrier formation, and has a highly repetitive nucleotide sequence containing very limited stretches of unique nucleotides for precise mapping to reference genomes. Sequencing strategies using PCR and conventional Sanger sequencing have been successful for complete FLG coding DNA sequence amplification to identify pathogenic mutations but this time-consuming, labour intensive method has restricted utility. Next-generation sequencing (NGS) offers obvious benefits to accelerate FLG analysis but standard re-sequencing techniques can be expensive, especially for a single target gene of interest. We therefore designed a protocol to improve FLG sequencing throughput using a set of FLG-specific PCR primer assays compatible with microfluidic amplification, multiplexing and current NGS protocols. Using DNA reference samples with known FLG genotypes for benchmarking, this protocol is shown to be concordant for variant detection. Analyzing cohorts from ethnicities previously not studied for FLG variants demonstrates usefulness for discovery projects. This comprehensive sequencing protocol is labour-efficient and offers an affordable solution to scale up FLG sequencing for larger cohorts. Robust and rapid FLG sequencing can improve patient stratification for research projects and provide a framework for gene specific diagnosis in the future." @default.
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- W2951273958 date "2017-05-01" @default.
- W2951273958 modified "2023-09-26" @default.
- W2951273958 title "533 Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants" @default.
- W2951273958 doi "https://doi.org/10.1016/j.jid.2017.02.553" @default.
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