Figure 1.

NeoSeq workflow schematic, proband pedigree, and alignment data. (A) Schematic of NeoSeq protocol workflow: candidate patient identification and consent, whole-genome sequencing (WGS) at ARUP, UCGD and ARUP genomic analyses, sequencing quality control, review of genomic variant candidates, clinical and research results released to family and clinical care team. (B) Proband pedigree featuring unaffected mother, father, and brother. (C) Alignment of the SNAP25 gene for proband, mother, and father reveals heterozygous de novo mutation Chr 20 (GRCh38): g.10299389 C > T.