Computational and Statistical Genomics

About

Our group focuses on understanding the genetic underpinnings of human health. We utilize large-scale biobanks (such as the UK Biobank and FinnGen) to investigate how genetic variation, including structural variants (large genomic rearrangements), influences disease and phenotypic diversity. Our research involves two interconnected areas. First, we explore the role of structural variants in shaping individual traits and disease risk. By integrating genomics with multi-omics data, we aim to decipher the intricate relationships between molecular features and structural genomic changes. Second, we analyze genetic relationships within and between populations by identifying shared haplotypes and employing advanced statistical models.

We develop efficient computational methods for processing and analyzing these massive genomic datasets. These tools have played an important role in several UK Biobank releases and are widely adopted within the research community.

The Rubinacci group is part of the Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki.

Acknowledgments
Contact

Simone Rubinacci
Group Leader
Institute of Molecular Medicine Finland (FIMM)
University of Helsinki
Tukholmankatu 8, Office D301b 
00290 Helsinki

E-mail: simone.rubinacci@helsinki.fi