Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Maurizio GrassanoAndrea CalvoCristina MogliaMaura BrunettiMarco BarberisLuca SbaizAntonio CanosaUmberto ManeraRosario VastaLucia CorradoSandra D'AlfonsoLetizia MazziniSonja W ScholzCliffton L DalgardJinhui DingRaphael J GibbsRuth ChiaBryan J TraynorAdriano Chionull nullPublished in: Neurology (2020)
We identified potential disease-causing variants in 11.9% of our patients. We identified the genes most frequently involved in our cohort and confirmed the contribution of rare variants in disease risk. Our results provide further insight into the pathologic mechanism of the disease and demonstrate the importance of genome-wide sequencing as a diagnostic tool.
Keyphrases
- genome wide
- copy number
- end stage renal disease
- dna methylation
- chronic kidney disease
- ejection fraction
- newly diagnosed
- squamous cell carcinoma
- prognostic factors
- peritoneal dialysis
- gene expression
- neoadjuvant chemotherapy
- single cell
- radiation therapy
- risk assessment
- transcription factor
- genome wide identification
- bioinformatics analysis
- genome wide analysis