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Diagnostics
Original research
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases

Authors

  • Sung Eun Hong Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea PubMed articlesGoogle scholar articles
  • Jana Kneissl Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea PubMed articlesGoogle scholar articles
  • Anna Cho Department of Pediatrics, Rare Disease Center, Seoul National University Bundang Hospital, Gyeonggi-do, Korea PubMed articlesGoogle scholar articles
  • Man Jin Kim Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea PubMed articlesGoogle scholar articles
  • Soojin Park Department of Pediatrics, Pediatric Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea PubMed articlesGoogle scholar articles
  • Jeongeun Lee Interdisciplinary Program in Bioengineering, Graduate School, Seoul National University, Seoul, Korea PubMed articlesGoogle scholar articles
  • Sijae Woo Graduate School of Medical Science and Engineering and KAIST Institute for Health Science and Technology, Korea Advanced Institute of Science and Technology, Daejeon, Korea PubMed articlesGoogle scholar articles
  • Sora Kim Department of Genome Medicine and Science, Gachon University College of Medicine, Incheon, Korea PubMed articlesGoogle scholar articles
  • Jun-Soon Kim Department of Neurology, Seoul National University College of Medicine, Seoul, Korea Department of Neurology, Seoul National University Bundang Hospital, Geyonggi-do, Korea PubMed articlesGoogle scholar articles
  • Soo Yeon Kim Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea Department of Pediatrics, Pediatric Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea PubMed articlesGoogle scholar articles
  • Sungwon Jung Department of Genome Medicine and Science, Gachon University College of Medicine, Incheon, Korea Gachon Institute of Genome Medicine and Science, Gachon University Gil Medical Center, Incheon, Korea PubMed articlesGoogle scholar articles
  • Jinkuk Kim Graduate School of Medical Science and Engineering and KAIST Institute for Health Science and Technology, Korea Advanced Institute of Science and Technology, Daejeon, Korea PubMed articlesGoogle scholar articles
  • Je-Young Shin Department of Neurology, Seoul National University College of Medicine, Seoul, Korea Department of Neurology, Seoul National University Hospital, Seoul, Korea PubMed articlesGoogle scholar articles
  • Jong-Hee Chae Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea Department of Pediatrics, Pediatric Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea PubMed articlesGoogle scholar articles
  • Murim Choi Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea PubMed articlesGoogle scholar articles
  1. Correspondence to Murim Choi, Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea; murimchoi{at}snu.ac.kr; Jong-Hee Chae, Department of Pediatrics, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea; chaeped1{at}snu.ac.kr
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Citation

Hong SE, Kneissl J, Cho A, et al
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases
Journal of Medical Genetics 2022;59:1075-1081.

Publication history

  • Received November 1, 2021
  • Accepted March 8, 2022
  • First published April 6, 2022.
Online issue publication 
October 21, 2022

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.