Whole Exome Sequencing From Peripheral Blood

Whole exome sequencing was done as previously reported, using a Twist Human Core Exome library preparation with a Twist mitochondrial panel (Cat. No.: 102026, Twist Bioscience, San Francisco, CA, USA) on a NovaSeq Illumina platform (Illumina, San Diego, CA, USA) with an average coverage of 100x (16). Data were analyzed by applying the Genome Analysis Toolkit (GATK) Germline short variant discovery (SNPs + Indels) algorithm. Annotation of coding variants was performed, following the American College of Medical Genetics and Genomics (ACMG) recommendations (17).