Publications

Featured Publications

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

Finding a gene in the stacks Genetic disease diagnosis can be time-consuming because of the extensive literature searching required. To speed this process, Birgmeier et al. developed AMELIE (Automatic Mendelian Literature Evaluation), an end-to-end machine learning approach with web interface that finds relevant literature supporting the disease causality of genetic variants and their association with different…
Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer

Highlights This large analysis identified ancestry correlates in cancer Ancestry-associated artifacts and confounders were identified Ancestry effects are profoundly tissue specific Rates of FBXW7, VHL, and PBRM1 mutations and immune activity vary by ancestry Summary We evaluated ancestry effects on mutation rates, DNA methylation, and mRNA and miRNA expression among 10,678 patients across 33 cancer…
Domain-Specific Hardware Accelerators Communications of the ACM

From the simple embedded processor in your washing machine to powerful processors in data center servers, most computing today takes place on general-purpose programmable processors or CPUs. CPUs are attractive because they are easy to program and because large code bases exist for them. The programmability of CPUs stems from their execution of sequences of…