[Towards a better detection of intronic variants and other complex splicing abnormalities in dystrophinopathies]

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[Article in French]

Valérie Allamand. Med Sci (Paris). 2022 Dec.

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. 2022 Dec:38 Hors série n° 1:39.

doi: 10.1051/medsci/2022182. Epub 2023 Jan 16.

¹ Sorbonne Université-Inserm, Centre de Recherche en Myologie, Institut de Myologie, Paris, France.

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RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.
Okubo M, Noguchi S, Awaya T, Hosokawa M, Tsukui N, Ogawa M, Hayashi S, Komaki H, Mori-Yoshimura M, Oya Y, Takahashi Y, Fukuyama T, Funato M, Hosokawa Y, Kinoshita S, Matsumura T, Nakamura S, Oshiro A, Terashima H, Nagasawa T, Sato T, Shimada Y, Tokita Y, Hagiwara M, Ogata K, Nishino I. Okubo M, et al. Hum Genet. 2023 Jan;142(1):59-71. doi: 10.1007/s00439-022-02485-2. Epub 2022 Sep 1. Hum Genet. 2023. PMID: 36048237

1. Okubo M, Noguchi S, Awaya T, et al. RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy. Hum Genet 2022 Sep 1. Epub ahead of print.
1. https://www.worldmusclesociety.org/news/publication-highlights.