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PB-Motif—A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping

Long read sequencing technologies have the potential to accurately detect and phase variation in genomic regions that are difficult to fully characterize with conventional short read methods. These difficult to sequence regions include several clinically relevant genes with highly homologous pseudog...

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Detalles Bibliográficos
Autores principales: Stephens, Zachary, Milosevic, Dragana, Kipp, Benjamin, Grebe, Stefan, Iyer, Ravishankar K., Kocher, Jean-Pierre A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8355628/
https://www.ncbi.nlm.nih.gov/pubmed/34394200
http://dx.doi.org/10.3389/fgene.2021.716586