Table 1

The total number of genetic variants found during the diagnostic screening process

TypeHomHetHemiHet–hetTotal
Raw calls
 SNVs46 40590 98133882137 806
 Indels2182365312225869
 Total48 58794 634350104143 675
Clinically analysed
 SNVs16641722004358
 Indels2715070184
 Total19343222704542
Clinically reported
 SNVs5825290319
 Indels31484083
 Total89300130402
  • The zygosity of raw calls and clinically analysed variants is estimated from the sequencing read pileups of next-generation sequencing (NGS) data. The zygosity of clinically reported variants is confirmed through an alternative technique. hom, homozygous variants; het, heterozygous variants, hemi, hemizygous variants found on chrX in males; het–het, variants with two unique alternative alleles differing from the reference allele (hg19).