Parole chiave:
Medicina Genetica
Identificazione Geni Malattia
Next Generation Sequencing
Genomica Computazionale
Gene mapping in Mendelian and complex diseases, in particular neurodevelopmental disorders, epilepsy and platelet disorders. Implementation and development of bioinformatic methods for the identification of genomic variants and features, including copy number variants and genomic homozygosity. Genomic analysis and diagnostics through next generation sequencing strategies, primarily exome and genome sequencing.
