A 343 Italian cohort of patients analysed with array-comparative genomic hybridization: unsolved problems and genetic counselling difficulties.
Chiara Palka Bayard de VoloM AlfonsiE MorizioP Guaciali-FranchiA MohnF ChiarelliPublished in: Journal of intellectual disability research : JIDR (2021)
Our retrospective study resulted in confirming the high detection rate of microarrays. CNV classification remains a complex procedure. The difficulty in CNV classification points out the importance of the patient selection, helping the interpretation of the molecular cytogenetic results.
Keyphrases
- machine learning
- end stage renal disease
- deep learning
- newly diagnosed
- ejection fraction
- chronic kidney disease
- mental health
- copy number
- prognostic factors
- case report
- high resolution
- high throughput
- smoking cessation
- minimally invasive
- gene expression
- mass spectrometry
- hepatitis c virus
- high density
- hiv infected
- patient reported