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Image Search Results
Journal: Medicina
Article Title: Elucidating the Diagnostic Complexity of Round Cell Sarcoma with EWSR1-CREM Fusion: A Comprehensive Case Study
doi: 10.3390/medicina60040544
Figure Lengend Snippet: ( A ) Next-generation sequencing by using Illumina TSO500 identified EWSR1-CREM fusion in the tumor. Additional benign and uncertain mutations in ASXL1, PARP1, EPHAS, CCND3 were found. ( B ) Upon closer examination of the EWSR1-CREM fusion, we were able to determine ( C ) that this tumor originated from a fusion event involving exon 8 of the gene EWSR1 and exon 6 of the gene CREM.
Article Snippet: Therefore, we performed Next-generation sequencing by using
Techniques: Next-Generation Sequencing
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 (
Techniques: Variant Assay, Software, Sequencing