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Table 1 NGS quality report summary. Rare variants and X-linked variants are defined as having allele frequencies < 1% in ESP5000 (from NHLBI EVS), 1000G and CG52. Compound heterozygous variants are restricted to non-synonymous variants shared heterozygous with each parent and with allele frequencies of < 1% in each reference database. De novo events are defined as all variants in the IDT’s xGen Exome Research Panel target region which are seen in neither parent and are absent from dbSNP, EVS5000, 1000G and were required to have genotype qualities (GATK) > = 20 and read depth > = 10

From: De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

WES Parametersa Proband Father Mother
Captured target size 39 Mb 39 Mb 39 Mb
% target covered by 10+ reads 92.2% 96% 93.2%
Mean read depth of target region 85.6X 110X 89.2X
Total number of SNPs 47,769 50,336 48,307
Total number of INDELs 4651 4733 4642
N rare variants 1018 1008 932
N compound heterozygous variants 22 (11 genes) N/A N/A
N X-linked 10   
N de novo eventsb 11 N/A N/A
  1. aValues are limited to variants mapping to the IDT’s xGen Exome Research Panel v1.0 target region
  2. bAdditional de novo events are listed in Additional file 1: Table S1