Exome sequencing was performed in 79 trios that were not published before. Eleven trios were processed at the New York Genome Center. The DNA libraries were prepared using the Illumina TruSeq Sample Prep Kit (Illumina). The coding exons were captured using Agilent SureSelect Human All Exon Kit v2 (Agilent Technologies). Samples were multiplexed and sequenced with paired-end 75bp reads on Illumina HiSeq 2500 platform according to the manufacturer’s instructions. Sixty-eight trios processed at University of Washington Northwest Genome Center were captured using NimbleGen SeqCap EZ Human Exome V2 kit (Roche NimbleGen), and sequeced on HiSeq 4000 in 75 bp paired-end reads.
Another 192 trios were processed at Baylor College of Medicine Human Genome Sequencing Center using whole genome sequencing as part of the Gabriella Miller Kids First Pediatric Research Program. Among these, 27 trios were included in the previous exome study [17 (link)] but had no damaging de novo variants. Genomic libraries were prepared by the Illumina TruSeq DNA PCR-Free Library Prep Kit (Illumina) with average fragment length about 350 bp, and sequenced as paired-end reads of 150-bp on Illumina HiSeq X platform.
Another 192 trios were processed at Baylor College of Medicine Human Genome Sequencing Center using whole genome sequencing as part of the Gabriella Miller Kids First Pediatric Research Program. Among these, 27 trios were included in the previous exome study [17 (link)] but had no damaging de novo variants. Genomic libraries were prepared by the Illumina TruSeq DNA PCR-Free Library Prep Kit (Illumina) with average fragment length about 350 bp, and sequenced as paired-end reads of 150-bp on Illumina HiSeq X platform.