Sureselect all exon v6 kit

gDNA from whole blood was extracted using the ReliaPrepTM Large volume HT gDNA Isolation System from Promega according to the kit’s instructions. After extraction, ES was performed by enriching the coding exons with the SureSelect All Exon v6 kit (Agilent Technologies, Santa Clara, CA, USA), followed by paired-end 2 × 150 bp sequencing on a HiSeq3000 platform (Illumina, San Diego, CA, USA). Raw sequence reads were processed using an in-house-developed pipeline, and data analysis was limited to a panel of 1109 selected genes associated with intellectual disability and epilepsy. Confirmation and segregation analyses were performed using PCR amplification and Sanger sequencing. Primers are available on request. Since several variants on chromosome 1 were present in the homozygous state, PLINK software was used to detect the regions of homozygosity (ROH) [14 (link)].

DNA was purified using DNeasy Blood & Tissue Kit (Qiagen, Hilden, Germany). Library preparation and sequencing were performed by DKFZ Genomics and Proteomics Core Facility. WES libraries were prepared using SureSelect All Exon V6 Kit (Agilent Technologies, Santa Clara, CA, USA) and subsequently sequenced on HiSeq 4000 (Illumina) paired-end 100bp reads with, on average, 118 million reads per sample.

Library preparation and whole exome sequencing was carried out by Novogene (Novogene Bioinformatics Technology Co., Ltd, Beijing, China). Library preparation was done using the Agilent SureSelect All Exon V6 kit (Agilent Technologies, Santa Clara, CA, USA), starting from 0.5–1.5 μg genomic DNA of tumor and non-tumor samples. Paired-end sequencing with a read length of 2 × 100 nucleotide was performed on Illumina HiSeq2000 (Illumina, Inc., San Diego, CA, USA).