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

BACKGROUND: Whole-exome sequencing-based diagnosis of rare diseases typically yields 40%–50% of success rate. Precise diagnosis of the patients with neuromuscular disorders (NMDs) has been hampered by locus heterogeneity or phenotypic heterogeneity. We evaluated the utility of transcriptome sequenci...

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Detalles Bibliográficos
Autores principales: Hong, Sung Eun, Kneissl, Jana, Cho, Anna, Kim, Man Jin, Park, Soojin, Lee, Jeongeun, Woo, Sijae, Kim, Sora, Kim, Jun-Soon, Kim, Soo Yeon, Jung, Sungwon, Kim, Jinkuk, Shin, Je-Young, Chae, Jong-Hee, Choi, Murim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9613860/
https://www.ncbi.nlm.nih.gov/pubmed/35387801
http://dx.doi.org/10.1136/jmedgenet-2021-108307

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9613860/
https://www.ncbi.nlm.nih.gov/pubmed/35387801
http://dx.doi.org/10.1136/jmedgenet-2021-108307

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