Patients in the HCM group underwent genetic testing following a methodology that was described in detail elsewhere [14 (link),15 (link)]. In summary, blood samples were collected at enrollment, and DNA was isolated using the MagCore Genomic DNA Whole Blood Kit (RBC Bioscience, Taipei, Taiwan). Targeted sequencing was performed on an Illumina MiSeq platform using TruSight Cardio Sequencing Kit (Illumina, San Diego, California, SDSU, USA) following the manufacturer’s instructions.
The procedure targeted 47 core and emerging genes associated with HCM, including genes encoding for sarcomere and sarcomere-associated proteins. Variants were classified according to currently available standards and guidelines, taking into account evidence such as allele frequency in control populations, genotype segregation, amino-acid conservation, and in silico prediction [16 (link)].
The procedure targeted 47 core and emerging genes associated with HCM, including genes encoding for sarcomere and sarcomere-associated proteins. Variants were classified according to currently available standards and guidelines, taking into account evidence such as allele frequency in control populations, genotype segregation, amino-acid conservation, and in silico prediction [16 (link)].
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