trusight rapid (Illumina Inc)
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Illumina Inc
trusight rapid
Trusight Rapid, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 96/100, based on 82 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/fc/TruSight+Rapid+Capture/pm28529006-32-12-16
Average 96 stars, based on 82 article reviews
Trusight Rapid, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 96/100, based on 82 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/fc/TruSight+Rapid+Capture/pm28529006-32-12-16
Average 96 stars, based on 82 article reviews
trusight rapid - by Bioz Stars,
2026-10
96/100 stars
Images
1) Product Images from "Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes."
Article Title: Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.
Journal: The Journal of molecular diagnostics : JMD
doi: 10.1016/j.jmoldx.2017.05.001
Figure Legend 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.
Techniques Used: Variant Assay, Software, Sequencing
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