A Silver Standard Corpus of Human Phenotype-Gene Relations

Understand

Human phenotype-gene relations are fundamental to fully understand the origin of some phenotypic abnormalities and their associated diseases.

• Biomedical literature is the most comprehensive source of these relations, however, we need Relation Extraction tools to automatically recognize them.
• Most of these tools require an annotated corpus and to the best of our knowledge, there is no corpus available annotated with human phenotype-gene relations.
• This paper presents the Phenotype-Gene Relations (PGR) corpus, a silver standard corpus of human phenotype and gene annotations and their relations.