P627: Utilization of Twist CNV Backbone Spike-in Panel with exome for replacing cytogenetic arrays
Abstract
Cytogenetic array has been the gold standard for detection of copy number variation (CNV). Next Generation Sequencing (NGS) is becoming a standard tool for clinical labs, enabling platform consolidation into an all-in-one NGS assay to replace arrays. Here we describe a method to leverage Twist Bioscience’s double-stranded DNA probes that can be individually tuned to enrich regions of interest with exceptional uniformity, reducing the overall cost of sequencing.
Fields of Study & Subjects
Genomics and Rare Diseases
Genomic variations and chromosomal abnormalities
Prenatal Screening and Diagnostics
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104117–104117
- Publication date
- 1 January 2026
- Language
- EN