The main focus of my research is the analysis of whole-genome and whole-exome sequencing data to understand how genetic variations affect human health.
After years being applied mainly for research purposes, now WGS and WES are quickly spreading also on clinical settings and in everyday life thanks to direct-to-costumer private services. New sequencing machines can now produce Tb of data in few days posing a great challenge for downstream data analysis.
As a bioinformatician, I try to address the constant need for new computational methods to extract useful information from the big amount of genomic data and identify trait-related variants. My interest is especially on addressing the huge gap in the interpretation of non-coding variants and other kinds of usually disregarded variants to improve the diagnostic yield of WES and WGS analysis.
Coming from a genetic/biological background, I want my results to be biologically meaningful as well as easily understandable.
Investigating an in silico approach for prioritizing antidepressant drug prescription based on drug-induced expression profiles and predicted gene expression.
Shoaib M. et al, (2020), The pharmacogenomics journal
Author Correction: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme.
Magri C. et al, (2020), Scientific reports, 10
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma
Winter H. et al, (2019), Cancers, 11, 1895 - 1895
Genomic restricted maximum likelihood (GREML) analysis to estimate the heritability of response/resistance in major depressive disorder (MDD)
Shoaib M. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1677 - 1677
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Ritelli M. et al, (2019), Genes, 10