RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline m...
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
About this item
Full title
Author / Creator
Hamanaka, Kohei , Miyatake, Satoko , Koshimizu, Eriko , Tsurusaki, Yoshinori , Mitsuhashi, Satomi , Iwama, Kazuhiro , Alkanaq, Ahmed N. , Fujita, Atsushi , Imagawa, Eri , Uchiyama, Yuri , Tawara, Nozomu , Ando, Yukio , Misumi, Yohei , Okubo, Mariko , Nakashima, Mitsuko , Mizuguchi, Takeshi , Takata, Atsushi , Miyake, Noriko , Saitsu, Hirotomo , Iida, Aritoshi , Nishino, Ichizo and Matsumoto, Naomichi
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
The diagnostic rate for Mendelian diseases by exome sequencing (ES) is typically 20–40%. The low rate is partly because ES misses deep-intronic or synonymous variants leading to aberrant splicing. In this study, we aimed to apply RNA sequencing (RNA-seq) to efficiently detect the aberrant splicings and their related variants.
Aberrant splicing i...
Alternative Titles
Full title
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
Authors, Artists and Contributors
Author / Creator
Miyatake, Satoko
Koshimizu, Eriko
Tsurusaki, Yoshinori
Mitsuhashi, Satomi
Iwama, Kazuhiro
Alkanaq, Ahmed N.
Fujita, Atsushi
Imagawa, Eri
Uchiyama, Yuri
Tawara, Nozomu
Ando, Yukio
Misumi, Yohei
Okubo, Mariko
Nakashima, Mitsuko
Mizuguchi, Takeshi
Takata, Atsushi
Miyake, Noriko
Saitsu, Hirotomo
Iida, Aritoshi
Nishino, Ichizo
Matsumoto, Naomichi
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03842260v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03842260v1
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0360-6
