Prioritization
With TADA, our disease-agnostic AI method, we place 18% more known pathogenic SVs among the top 10 candidates compared to best-in-class open-source algorithms.
Incorporating disease-specific regulatory information in the Lucid expert decision system boosts our performance even further to more than 90% for selected diseases
Publications
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology
2024 November. 10
Acute myeloid leukemia with complex karyotype (CK-AML) is associated with poor prognosis, which is only in part explained by underlying TP53 mutations.
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
2023 April. 11
Heterotopic ossification is a disorder caused by abnormal mineralization of soft tissues in which signaling pathways such as BMP, TGFβ, and WNT are known key players in driving ectopic bone formation.
TADA - A machine learning tool for functional annotation-based prioritisation of pathogenic CNVs
2022 March. 01
Few methods have been developed to investigate copy number variants (CNVs) based on their predicted pathogenicity. We introduce TADA, a method to prioritise pathogenic CNVs through …