Litcius/Paper detail

RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing

Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu

2023Journal of Human Genetics11 citationsDOIOpen Access PDF

Topics & Concepts

BiologyGeneticsIntronRNA splicingMinigeneTransposable elementExonRNAExome sequencingInsertion sequenceIllumina dye sequencingDNA sequencingGeneComputational biologyGenomeMutationChromosomal and Genetic VariationsRNA modifications and cancerGenomic variations and chromosomal abnormalities