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

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

WES Parameters^a	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 events^b	11	N/A	N/A

^aValues are limited to variants mapping to the IDT’s xGen Exome Research Panel v1.0 target region
^bAdditional de novo events are listed in Additional file 1: Table S1

ISSN: 1471-2350