Isoform analysis of heterozygous putative splicing variants at the allele level using nanopore long-read sequencing

Isoform analysis of heterozygous putative splicing variants at the allele level using nanopore long-read sequencing

Abstract One of the challenges in clinical genetics for rare diseases and personalized medicine is evaluating isoform alterations arising from heterozygous putative splicing variants at the allele level. Our aim was to analyze these variants by dividing cDNA or direct RNA nanopore long reads into tw...

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Main Authors: Kokoro Ozaki, Takashi Irioka, Shohei Noma, Akira Machida, Moe Fukunaga, Tatsuro Murano, Chitose Takahashi, Michihira Tagami, Tsugumi Kawashima, Tomoko Hirata, Yuki Yasuoka, Hiroya Kuwahara, Toshiyuki Araki, Ken Yagi, Hidehiro Mizusawa, Kinya Ishikawa, Yasushi Okazaki, Takanori Yokota
Format: Article
Language:English
Published: Nature Portfolio 2025-08-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-14566-z
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https://doi.org/10.1038/s41598-025-14566-z

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