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Analyzing Performance of Twist Bioscience Exome Enrichment with Spike-in CNV Backbone Panels at Various Probe Densities Leveraging Golden Helix VS-CNV Analysis Software

2024-05-21

Abstract excerpt

Clinical Whole Exome Sequencing (WES) offers a high diagnostic yield test by detecting pathogenic variants in all coding genes of the human genome. WES is poised to consolidate multiple genetic tests by accurately identifying Copy Number Variation (CNV) events, typically necessitating microarray analysis. However, standard commercial exome kits are typically limited to targeting exon coding regions, leaving signif...

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Literature Corpus work: 15ad69eb-c598-5ff5-9330-377d41ef9c0a
DOI: 10.1101/2024.05.19.594885

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