Genomic DNA was extracted from whole blood from the affected children and their parents. Exome sequencing at GeneDx was performed on exon targets captured using the Agilent SureSelect Human All Exon V4 (50 Mb) or the Clinical Research Exome kit (Agilent Technologies) according to the manufacturer's instructions. Libraries were sequenced using the Illumina HiSeq 2000 or 2500 sequencing system with 100-bp paired-end reads (Illumina). Whole-exome sequence data for all sequenced family members was analyzed using GeneDx's XomeAnalyzer (a variant annotation, filtering, and viewing interface for WES data) as described previously (Table 3 ; Tanaka et al. 2016 (link)). Identified sequence variants of interest were confirmed in each proband and both parents by conventional di-deoxy DNA sequence analysis using an ABI3730 (Life Technologies).
Sureselect human all exon v4 50 mb
Manufactured by Agilent Technologies
The SureSelect Human All Exon V4 (50 Mb) is a targeted enrichment solution for whole exome sequencing. It is designed to capture the coding regions of the human genome.
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Lab products found in correlation
3 protocols using sureselect human all exon v4 50 mb
1
Whole Exome Sequencing for Disease Identification
2
Exome Sequencing Variant Analysis
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Exome sequencing was carried out by GeneDx. Using genomic DNA from the proband and parents, the exonic regions and flanking splice junctions of the genome were captured using the SureSelect Human All Exon V4 (50 Mb), the Clinical Research Exome kit (Agilent Technologies, Santa Clara, CA) or the IDT xGen Exome Research Panel v1.0 (Integrated DNA Technologies, Coralville, IA). Massively parallel (NextGen) sequencing was done on an Illumina system with 100 bp or greater paired-end reads. Reads were aligned to human genome build GRCh37/UCSC hg19 and analyzed for sequence variants using a custom-developed analysis tool. A prediction tool, PROVEAN, (https://www.jcvi.org/research/provean ), was used to assist in interpretation. Additional sequencing technology and the variant interpretation protocol has been previously described (Retterer et al., 2016 (link)). The general assertion criteria for variant classification are publicly available on the GeneDx ClinVar submission page (http://www.ncbi.nlm.nih.gov/clinvar/submitters/26957/ ).
3
Exome Sequencing of Affected Families
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Genomic DNA was extracted from whole blood from the affected children and their parents. Exome sequencing at GeneDx was performed on exon targets captured using the Agilent SureSelect Human All Exon V4 (50 Mb) or the Clinical Research Exome kit (Agilent Technologies) according to the manufacturer's instructions. Libraries were sequenced using the Illumina HiSeq 2000 or 2500 sequencing system with 100-bp paired-end reads (Illumina). Whole-exome sequence data for all sequenced family members was analyzed using GeneDx's XomeAnalyzer (a variant annotation, filtering, and viewing interface for exome sequencing data) as described previously (Tanaka et al. 2017 (link)). The identified sequence variant of interest was confirmed in the proband, affected siblings, and both parents by conventional di-deoxy DNA sequence analysis using an ABI3730 (Life Technologies).
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