Motivation A biomedical relation statement is commonly expressed in multiple sentences
and consists of many concepts, including gene, disease, chemical and mutation. To …

With the proliferation of genomic sequence data for biomedical research, the exploration of
human genetic information by domain experts requires a comprehensive interrogation of …

Rare diseases (RDs) may affect individuals in small numbers, but they have a significant
impact on a global scale. Accurate diagnosis of RDs is challenging, and there is a severe …

Motivation Previous studies have shown that automated text-mining tools are becoming
increasingly important for successfully unlocking variant information in scientific literature at …

Extraction of associations of singular nucleotide polymorphism (SNP) and phenotypes from
biomedical literature is a vital task in BioNLP. Recently, some methods have been …

Motivation Virus mutation is one of the most important research issues which plays a critical
role in disease progression and has prompted substantial scientific publications. Mutation …

Motivation In the modern era of genomic research, the scientific community is witnessing an
explosive growth in the volume of published findings. While this abundance of data offers …

Background Iron-refractory iron deficiency anaemia (IRIDA) is an autosomal recessive iron
deficiency anaemia caused by mutations in the TMPRSS6 gene. Iron deficiency anaemia is …

Motivation Identification and interpretation of clinically actionable variants is a critical
bottleneck. Searching for evidence in the literature is mandatory according to …

Objective: This study aimed to build a comprehensive dataset of human genetic
polymorphisms associated with nutrition by integrating data from multiple sources, including …