Table 1.

Identifying Pertinent Genes Beginning With Variants (Averages for n = 14).^a

	Trio with family-aware calling	Trio	Proband only
Frequency data	Variome	Variome	Variome	1000G
Variants	9461	7126	7126	7126
Genes with severity >0	807	981	1050	1398
Genes after comparisonsb	89	206	798	1335
Known genesc	13	27	92	147
Gene rank of diagnosisd	1.0	1.1	1.2	1.4
Pertinence for no. 1 diagnosis	99.9%	90.8%	89.3%	81.6%
Correct gene pertinente	100%	79%	79%	64%
No. 1 gene = causal	100%	93%	93%	86%

^aThe analysis includes the 14 cases in which a causal gene variant was identified that corresponded to a published human germline phenotype.

^bGenes after compound heterozygosity comparisons (and novelty analysis for trio).

^cGenes for which the zygosity found corresponded to a known human phenotype.

^dGenes with known phenotype to be evaluated manually to reach diagnosis.

^ePertinence ≥99%.