Table 1

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

Raw calls
 SNVs46 40590 98133882137 806
 Total48 58794 634350104143 675
Clinically analysed
Clinically reported
  • 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).