Blood sample Homo sapiens
Genomic DNA was extracted from EDTA blood specimens using the standard protocol. Exome capture was performed using xGen Exome Research Panel v2 (Integrated DNA Technologies, Coralville, Iowa, USA) and sequencing was performed using NovaSeq 6000 (Illumina, San Diego, CA, USA). In total 9,601,998,207 bases of sequence were generated and uniquely aligned to the Genome Reference Consortium Human Build 37 (GRCh37) and Revised Cambridge Reference Sequence (rCRS) of the mitochondrial genome, generating 131.53 mean depth of coverage within the 34366188 bases of the captured region, which is approximately 99.3% of the RefSeq protein coding region. Approximately 98.90%  of the targeted bases were covered to a depth of 20x.  In total, 70,894 single nucleotide variants (SNV) and 11,455 small insertions and deletions (indel) were identified. The variant interpretation was performed using EVIDENCE.