Maarja Jõeloo

Detecting CYP2C19 deletions from genotyping array signals using neural networks

This paper develops a neural network model, nnCNV, to detect CYP2C19 deletions from genotyping array signals, achieving higher accuracy than existing methods.

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data

StarPhase diplotypes 21 pharmacogenes using long-read sequencing with high accuracy, updating 26.2% of existing diplotypes and highlighting gaps in pharmacogenomic databases.

From Biobanking to Personalized Medicine: the journey of the Estonian Biobank

The paper reviews the Estonian Biobank's role in advancing genomics research and personalized medicine through its comprehensive data and translational focus.

Copy-number variants as modulators of common disease susceptibility

This study identifies 73 CNV-related disease signals in 331,522 UK Biobank participants, showing CNVs increase disease risk and earlier onset, with polygenic effects and gene dosage impacts.