The NGS [37 (link)] was run using an AmpliSeq Custom DNA panel (Illumina), which was designed using the Illumina DesignStudio Sequencing Assay Designer. The targeted NGS employed the amplicon sequencing method, where PCR primers were used to amplify the sequences of interest. Samples used for amplicon sequencing were transformed into libraries and enriched via PCR amplification individually and barcoded by ligating the indexes into the amplicons. The libraries were then pooled and analyzed using a bench-top sequencer. The panel in this study was designed to identify the 4 FHCGs, namely, LDLR, APOB-100, PCSK9, and LDLRAP1, and the HCAGs, namely, ABCG5 and ABCG8, with an overall gene coverage of 98.61% [38 (link)-40 (link)].
Ramli A.S., Qureshi N., Abdul-Hamid H., Kamal A., Kanchau J.D., Shahuri N.S., Akyea R.K., Silva L., Condon L., Abdul-Razak S., Al-Khateeb A., Chua Y.A., Mohamed-Yassin M.S., Baharudin N., Badlishah-Sham S.F., Abdul Aziz A.F., Mohd Kasim N.A., Sheikh Abdul Kadir S.H., Kai J., Leonardi-Bee J, & Nawawi H. (2023). Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study. JMIR Research Protocols, 12, e47911.
Identification of 4 FHCGs (LDLR, APOB-100, PCSK9, LDLRAP1) and 2 HCAGs (ABCG5, ABCG8)
control variables
AmpliSeq Custom DNA panel (Illumina) designed using Illumina DesignStudio Sequencing Assay Designer
Overall gene coverage of 98.61%
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