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

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...

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Detalles Bibliográficos
Autores principales: Turner, Amy J., Derezinski, Ashley D., Gaedigk, Andrea, Berres, Mark E., Gregornik, David B., Brown, Keith, Broeckel, Ulrich, Scharer, Gunter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10324673/
https://www.ncbi.nlm.nih.gov/pubmed/37426826
http://dx.doi.org/10.3389/fphar.2023.1195778

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10324673/
https://www.ncbi.nlm.nih.gov/pubmed/37426826
http://dx.doi.org/10.3389/fphar.2023.1195778

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