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 ...

Gene annotation is one of the core mechanisms through which we decipher the information that is contained in genome sequences. Gene annotation is complicated by the existence of 'transcriptional ...

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 ...