Genome Nexus (1) aggregates variant information from sources that are relevant to cancer research and clinical applications, (2) allows high-performance programmatic access to the aggregated data via ...

SpatialML is an annotation scheme for marking up references to places in natural language. It covers both named and nominal references to places, grounding them where possible with geo-coordinates, ...

Sequencing costs have fallen so dramatically that a single laboratory can now afford to sequence even large genomes. Genome annotation pipelines synthesize alignment-based evidence with ab initio gene ...

Interpretation of genomic variants in tumor samples still presents a challenge in research and the clinical setting. A major issue is that information for variant interpretation is fragmented across ...