Variant Validation Based on a Quantitative Polymerase Chain Reaction (qPCR) or Sanger Sequencing

We respectively selected 1,090, 55, and 132 probesets of familial hypercholesterolemia (FH), thrombophilia (TH), and maturity-onset diabetes of the young (MODY) for disease-oriented analyses. The MAF distributions of the probesets are shown in Supplementary Table S2 in “Supplemental materials”. All samples with heterozygous calls were validated by a qPCR or Sanger sequencing. We used the Applied Biosystems™ Primer Designer™ Tool (Applied Biosystems, Santa Clara, CA, United States) to pick specific primer pairs for Sanger sequencing, we designed primers with the Primer3 algorithm (Kumar and Chordia, 2015) and checked for sequence similarities throughout the human genome using the Primer-BLAST tool (Ye et al., 2012).