Blood sample homo sapiens
Genomic DNA was extracted from EDTA blood specimen using 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). 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.Variant interpretation was performed using EVIDENCE, a software developed in-house to prioritize variants based on the guideline recommended by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP)