Nextera capture custom enrichment kit

Total DNA was extracted from peripheral blood samples using the Wizard Genomic DNA Purification Kit (Promega, Mannheim, Germany) according to the manufacturer’s instructions, quantified, and qualitatively checked using NanoDrop 2000c (Thermo Fisher Scientific, Waltham, MA, USA).
Custom targeted gene enrichment and DNA library preparation were performed using the Nextera Capture Custom Enrichment kit (Illumina) according to the manufacturer’s instructions. The targeted regions were sequenced using the Illumina MiSeq platform, generating approximately two millions of 150-bp paired-end reads for each sample (Q30 ≥90%).
Sequencing and genotyping data were submitted to “The European Genome-phenome Archive” EGA (http://www.nature.com/ng/journal/v47/n7/full/ng.3312.html), with the accession number EGAS00001002506. S3 Table reports the accession numbers of the sequencing data for each patient.

Genomic DNA was extracted from patients’ peripheral blood samples, and custom-targeted gene enrichment and DNA library preparation were performed using a Nextera Capture Custom Enrichment kit (Illumina, San Diego, CA, USA). DNA samples were analyzed via targeted next-generation sequencing of 257 genes related to cardiomyopathies, and sequenced using the Illumina MiSeq platform, generating approximately two million 150-bp paired-end reads for each sample (Q30 ≥ 90%), as previously described [10 (link)]. Genetic variants predicted to alter proteins were selected considering the phenotype prevalence in the general population. To assess the potential functional impacts of variants, we used HGMD, Intervar, CADD, and Protein Variation Effect Analyzer (Provean). We assessed their pathogenic roles by referring to published data and/or evidence from the ClinVar and HGMD databases.