Table 1.

Summary of the sequencing results in the validation study.

Feature		Index	Sister	Mother
Median insert size (bpa)		297	268	268
Total reads (millions)		130.4	100.5	148.7
Aligned reads (%)		99.5	100	100
Mean coverage (%)		49.3	44.3	54.2
Targeted fraction ≥ 30X (%)		66	55	76
Ti/Tvb		3.16	3.19	3.22
Number of variantsc		16,394	16,231	17,325
	SNVsd	16,087	15,917	16,984
	Indelse	307	314	341

^abp: base pairs.

^bTi/Tv: ratio of transitions to transversions.

^cHigh confidence variants (FILTER=PASS; total depth≥20; genotype quality≥100; and mapping quality ≥ 50).

^dSNVs: single nucleotide variants.

^eIndels: insertion/deletion.