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Sureselect human all exon v4 or v5

Manufactured by Agilent Technologies

The SureSelect Human All Exon v4 or v5 is a DNA library preparation kit designed for targeted enrichment of human exonic regions. It enables the selective capture and sequencing of the protein-coding regions of the human genome.

Automatically generated - may contain errors

2 protocols using sureselect human all exon v4 or v5

1

Exome Sequencing Protocol for Genetic Analysis

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Genomic DNA was captured using SureSelect Human All Exon v4 or v5 (Agilent Technologies, Santa Clara, CA), and sequenced on an Illumina HiSeq2500 (Illumina, San Diego, CA) with 101 bp paired‐end reads. Exome data processing, variant calling, and variant annotation were performed at Department of Human Genetics, Yokohama City University Graduate School of Medicine as described previously.21
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2

Exome Sequencing for KCNB1 Mutation Detection

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Genomic DNA was captured using SureSelect Human All Exon v4 or v5 (Agilent Technologies), and sequenced on an Illumina HiSeq2000 (Illumina) with 101 bp paired-end reads. Exome data processing, variant calling, and variant annotation were performed as described previously36 (link). For detecting KCNB1 mutations in WES data, we focused on rare nonsynonymous KCNB1 variants absent in dbSNP137 (http://www.ncbi.nlm.nih.gov/projects/SNP/), Exome Variant Server database (http://evs.gs.washington.edu/EVS/), and in our in-house 575 control exomes. These KCNB1 variants were annotated using GenBank accession number NM_004975.2. Segregation of all candidate KCNB1 mutations was examined by Sanger sequencing using trio samples (patients and their parents). In families showing de novo mutations, parentage was confirmed by analyzing 12 microsatellite markers.
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