trusight rapid Search Results


trusight rapid  (Illumina Inc)
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Illumina Inc trusight rapid
Figure 4 Pipeline analysis for targeted NGS of multiple inherited cancer syndromes using the <t>TruSight</t> Cancer panel. In our analysis pipeline, .fastq files are used for alignment and variant calling in Isaac Enrichment, Burrows-Wheeler Aligner (BWA) Enrichment, and NextGENe software, and .vcf files are then imported to GeneticistAssistant for variant filtering. Supervised analysis of filtered variants will allow the identification of disease-associated variants and/or of pathogenic variants associated with cancer predisposing syndromes outside the clinical context (incidental finding), with both being supported (if needed) by visual inspection of .bam files in Golden Helix GenomeBrowse (GB). Variants called because <t>of</t> <t>sequencing</t> errors are discarded on visual inspection of .bam files in Golden Helix GB. 1000G, 1000 Genomes Project; ACMG, American College of Med- ical Genetics and Genomics; Alt.var.freq., percentage of reads with alter- native allele; CDS, coding sequence; EVS, Exome Variant Server; ExAC, Exome Aggregation Consortium; In-house freq., variant frequency among all of the samples in our in-house database; MAF, minor allele frequency.
Trusight Rapid, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 96/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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Average 96 stars, based on 1 article reviews
trusight rapid - by Bioz Stars, 2026-10
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tg trusight rapid capture  (Illumina Inc)
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Use these kits to prepare TruSight targeted sequencing libraries without time-consuming shearing protocols. Maximize the productivity of your lab personnel and Illumina sequencing technology with TruSight Rapid Capture. Integrates library preparation and enrichment steps Offers
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Figure 4 Pipeline analysis for targeted NGS of multiple inherited cancer syndromes using the TruSight Cancer panel. In our analysis pipeline, .fastq files are used for alignment and variant calling in Isaac Enrichment, Burrows-Wheeler Aligner (BWA) Enrichment, and NextGENe software, and .vcf files are then imported to GeneticistAssistant for variant filtering. Supervised analysis of filtered variants will allow the identification of disease-associated variants and/or of pathogenic variants associated with cancer predisposing syndromes outside the clinical context (incidental finding), with both being supported (if needed) by visual inspection of .bam files in Golden Helix GenomeBrowse (GB). Variants called because of sequencing errors are discarded on visual inspection of .bam files in Golden Helix GB. 1000G, 1000 Genomes Project; ACMG, American College of Med- ical Genetics and Genomics; Alt.var.freq., percentage of reads with alter- native allele; CDS, coding sequence; EVS, Exome Variant Server; ExAC, Exome Aggregation Consortium; In-house freq., variant frequency among all of the samples in our in-house database; MAF, minor allele frequency.

Journal: The Journal of molecular diagnostics : JMD

Article Title: Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

doi: 10.1016/j.jmoldx.2017.05.001

Figure Lengend Snippet: Figure 4 Pipeline analysis for targeted NGS of multiple inherited cancer syndromes using the TruSight Cancer panel. In our analysis pipeline, .fastq files are used for alignment and variant calling in Isaac Enrichment, Burrows-Wheeler Aligner (BWA) Enrichment, and NextGENe software, and .vcf files are then imported to GeneticistAssistant for variant filtering. Supervised analysis of filtered variants will allow the identification of disease-associated variants and/or of pathogenic variants associated with cancer predisposing syndromes outside the clinical context (incidental finding), with both being supported (if needed) by visual inspection of .bam files in Golden Helix GenomeBrowse (GB). Variants called because of sequencing errors are discarded on visual inspection of .bam files in Golden Helix GB. 1000G, 1000 Genomes Project; ACMG, American College of Med- ical Genetics and Genomics; Alt.var.freq., percentage of reads with alter- native allele; CDS, coding sequence; EVS, Exome Variant Server; ExAC, Exome Aggregation Consortium; In-house freq., variant frequency among all of the samples in our in-house database; MAF, minor allele frequency.

Article Snippet: Library Preparation and Sequencing For library preparation, we followed the manufacturer’s instructions (TruSight Rapid Capture Kit; Illumina Inc., San Diego, CA).

Techniques: Variant Assay, Software, Sequencing