Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
Yvan de FeraudyMarie VandrouxNorma Beatriz RomeroRaphaël SchneiderSafaa SakerAnne BolandJean-François DeleuzeValérie BiancalanaJohann BöhmJocelyn LaportePublished in: Genome medicine (2024)
Overall, this approach illustrates the importance of massive parallel gene sequencing as a comprehensive tool for establishing a molecular diagnosis for families with congenital myopathies. It also emphasizes the contribution of clinical data, histological findings on muscle biopsies, and the availability of DNA samples from additional family members to the diagnostic success rate. This study facilitated and accelerated the genetic diagnosis of congenital myopathies, improved health care for several patients, and opened novel perspectives for either repurposing of existing molecules or the development of novel treatments.
Keyphrases
- genome wide
- healthcare
- copy number
- end stage renal disease
- genome wide identification
- single cell
- newly diagnosed
- chronic kidney disease
- dna methylation
- single molecule
- peritoneal dialysis
- skeletal muscle
- prognostic factors
- cell free
- circulating tumor
- bioinformatics analysis
- gene expression
- patient reported outcomes
- machine learning
- transcription factor
- data analysis
- muscular dystrophy
- early onset
- nucleic acid
- health information