Translational Biomolecular Informatics

DBMI faculty members focus on understanding and communicating the molecular consequences of sequence variation and or downstream biomolecular gene products and metabolic products from a plethora of informatics-based research angles.

• In rare disease genetics, our faculty are focusing on finding structural variants (Quinlan), precision medicine from Omics data (Lussier, Quinlan)

• Single-Subject Studies of rare and infrequent disorders (Lussier), sequence Ontology (Eilbeck), synergistic and antagonistic interactions of non-coding variants (Lussier)

• Functional Convergence of non-coding variants for drug-repositioning and discovery of new clinical syndromes (Lussier), 4. Predicting impact of variation from protein structure simulation (Facelli)

• The Quinlan group has used the underlying strength in rare disease genetics to pivot to precision oncology, building on strengths to evaluate tumor heterogeneity

• The Eilbeck lab is working with the state health department to improve newborn screening with secondary genomic panel testing and is exploring standards-based communication of genetic data to parents and physicians. Dr. Eilbeck also engages in the international standards community – overseeing the Sequence Ontology and co-directing the GA4GH sequence Annotation Group. The faculty in this group excel at collaborative partnerships both internally at the U and externally at a national level

• The Lussier group has demonstrated the reduction of clinical trial cohort size by a factor of five- to ten-fold for analyzing statistically powered studies by conducting meta-analyses of single-subject responses to therapy of stimulus rather than conventional cross-subject studies