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

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...

Full description

Bibliographic Details
Main Authors: Zachary Stephens, Dragana Milosevic, Benjamin Kipp, Stefan Grebe, Ravishankar K. Iyer, Jean-Pierre A. Kocher
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
long reads
pseudogene
structural variation
congenital adrenal hyperplasia
CYP21A2
bioinformatics
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.716586/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.716586/full

Similar Items