Page 19 - PCC08

Diagnostic exome sequencing for ID
Patient‐parent trios are interpreted ‘in isolation’
Page 13 of 102
Can we systematically identify novel ID genes by meta‐analysis using all sequenced trios?
Meta‐analysis on 2,104 ID trios to find novel genes
ID trios Inhouse + literature
Uniformity for: Enrichment Mapping, Calling Annotation
820 ID trios inhouse 1,284 ID trios published
• • •
810 800
700 Uniformity of exome sequencing
600 approach:
500 • Agilent SureSelect v4 enrichment
• Illumina HiSeq PE 2x101bp 400 • 75x median coverage
300
200 Appropriate informed consent for this
100 study 70 23 6 3 0 3
0
1234567
DNM
1,079 de novo mutations (1.3 per patient) 915 different genes
105 with more than one DNM
PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 19
Number of genes