We analyzed the entire coding sequence of BLM from the exome sequencing data of 617 women with hereditary breast cancer (step 1) as described previously [33 (link)]. The Agilent SureSelect human exome kit (V6) was used for capturing target regions. The regions were sequenced on Illumina NextSeq 500. The mean depth of coverage was approximately 100×, 97.4% of the CCDS exons were covered at 20× depth of coverage and higher, which was used for variant calling. We looked for protein truncating genetic variants, including frame shift insertions, deletions, stop codon mutations, and variants at the consensus splice sites, which are likely to be dysfunctional.
Sureselect human exome kit v6
Manufactured by Agilent Technologies
The SureSelect Human Exome Kit (V6) is a targeted enrichment solution designed for capturing the protein-coding regions of the human genome, known as the exome. The kit utilizes in-solution hybridization technology to selectively capture and enrich the exonic regions of the human genome, allowing for efficient and cost-effective sequencing of the exome.
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Lab products found in correlation
4 protocols using sureselect human exome kit v6
1
Coding Sequence Analysis of BLM in Hereditary Breast Cancer
2
Exome Sequencing of APOBEC3B in Hereditary Breast Cancer
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We analyzed the entire coding sequence of APOBEC3B from the exome sequencing data of 617 women with hereditary breast cancer (step 1), as described previously [45 (link)]. The Agilent SureSelect human exome kit (V6) was used for capturing target regions. The regions were sequenced on Illumina NextSeq 500. The mean depth of coverage was approximately 100×, 97.4% of the CCDS exons were covered at 20× depth of coverage and higher which is used for variant calling. We looked for protein-truncating genetic variants, including frameshift insertions, deletions, stop codon mutations, and variants at the consensus splice sites, which are likely to be dysfunctional.
3
Comprehensive XRCC2 Exome Analysis
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We analyzed the entire coding sequence of XRCC2 from the exome sequencing data of 617 women with hereditary breast cancer (cases series 1) using the methodology described previously [16 (link)]. In brief, the Agilent SureSelect human exome kit (V6) was used for capturing target regions. The regions were sequenced on Illumina NextSeq 500. The mean depth of coverage was approximately × 100; 97.4% of the CCDS exons were covered at × 20 depth of coverage and higher which used for variant calling.
4
Exome Sequencing of Hereditary Prostate Cancer
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The first series of 390 men with hereditary prostate cancer were tested by exome sequencing as described previously [39 (link)]. In brief, The Agilent SureSelect human exome kit (V6) was used for capturing sequence target regions. Paired-end sequencing was performed on a high throughput sequencing cartridge of Illumina NextSeq 500. The mean depth of coverage was approximately 100× (range 62× to 171×). On average, 98.8% (range 87.6% to 99.0%) of the CCDS exons were covered at 20x depth of coverage and higher which used for variant calling. We sought to identify protein truncating variants, variants at the consensus splice site likely to be dysfunctional and known pathogenic missense or intronic mutations in BARD1 gene based on the literature, ClinVar and Human Genome Mutation Database.
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