2019
DOI: 10.1186/s12920-019-0647-8
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Genome analysis and knowledge-driven variant interpretation with TGex

Abstract: BackgroundThe clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes, and to identify the most relevant genetic variations underlying a patient’s phenotypes and symptoms. The adoption of Whole Genome Sequencing requires novel capacities for interpretation of non-coding variants.ResultsWe present TGex, the Translational Genomics expert, a novel genome variation analysis and interpretation platform, wit… Show more

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Cited by 39 publications
(23 citation statements)
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“…A range of commercial software has been reported to perform variant annotation and interpretation [ 26 , 41 43 ]. Compared with above mentioned software, Cruxome offers unique advantages (Table 1 ).…”
Section: Resultsmentioning
confidence: 99%
“…A range of commercial software has been reported to perform variant annotation and interpretation [ 26 , 41 43 ]. Compared with above mentioned software, Cruxome offers unique advantages (Table 1 ).…”
Section: Resultsmentioning
confidence: 99%
“…The FASTQs were uploaded into the Geneyx (previously TGex) Analysis platform. 13 Alignment and variant calling of single nucleotide variations, structural variants, CNVs and repeats were called using Illumina DRAGEN Bio-IT. The resulting VCF files were comprehensively annotated on the Geneyx Analysis annotation engine, and presented for analysis, filtering and interpretation.…”
Section: Methodsmentioning
confidence: 99%
“…Sequences were generated on an Illumina NovaSeq 6000 sequencing platform as 150 bp paired-end reads, to a final depth of 30X coverage. The FASTQs were uploaded into the Geneyx (previously TGex) Analysis platform (Dahary et al, 2019). Alignment and variant calling of single nucleotide variants (SNVs), copy number variants (CNVs) and structural variants (SVs), and repeats were called using Illumina DRAGEN Bio-IT.…”
Section: Whole Genome Sequencingmentioning
confidence: 99%