Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing

• Main Authors: Amy J. Turner (Author), Ashley D. Derezinski (Author), Andrea Gaedigk (Author), Mark E. Berres (Author), David B. Gregornik (Author), Keith Brown (Author), Ulrich Broeckel (Author), Gunter Scharer (Author)
• פורמט: ספר
• יצא לאור: Frontiers Media S.A., 2023-06-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Complex regions in the human genome such as repeat motifs, pseudogenes and structural (SVs) and copy number variations (CNVs) present ongoing challenges to accurate genetic analysis, particularly for short-read Next-Generation-Sequencing (NGS) technologies. One such region is the highly polymorphic...