Cargando…
Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases
BACKGROUND: Mitochondrial disease (MD) is genetically a heterogeneous group of disorders with impairment in respiratory chain complexes or pathways associated with the mitochondrial function. Nowadays, it is still a challenge for the genetic screening of MD due to heteroplasmy of mitochondrial genom...
Autores principales: | Sun, Chong, Wu, Shengyang, Chen, Ruiguo, Liu, Junwu, Wang, Jiasen, Ma, Yanyun, Yuan, Zhulin, Li, Yuezhen |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184660/ https://www.ncbi.nlm.nih.gov/pubmed/35388601 http://dx.doi.org/10.1002/mgg3.1943 |
Ejemplares similares
-
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
por: Chen, Xinlin, et al.
Publicado: (2022) -
Familial Intracranial Aneurysm Requires Not Only Whole-Exome Sequencing, But Also Mitochondrial DNA Sequencing
por: Finsterer, Josef
Publicado: (2022) -
Whole exome sequencing for diagnosis of hereditary thrombocytopenia
por: Mekchay, Ponthip, et al.
Publicado: (2020) -
Response to “Familial Intracranial Aneurysm Requires Not Only Whole-Exome Sequencing, But Also Mitochondrial DNA Sequencing”
por: Suh, Dae Chul, et al.
Publicado: (2022) -
A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data
por: García-Olivares, Víctor, et al.
Publicado: (2021)