TRI-IVIS for Genome Knowledge Related to SNP Analyses

A Deterministic Framework for Integrated Genome Variant Interpretation - The ‘GenomeVAP’

High-throughput genomic sequencing generates vast amounts of data, yet the interpretation of individual-genetic variants remains hindered by the dispersion of relevant evidence across various databases. We present a modular, web-based framework (GenomeVAP) designed for deterministic evidence integration in genomic rese...

A Semantic Model of Genetic Evidence: A Step Toward Bridging the Basic-Science-Clinic Gap

A semantic model for scientific evidence with three core classes is introduced, specialize it for genetics, align it structurally to FHIR Evidence with a SEPIO-anchored credibility decomposition, and attach a compact dimensional vocabulary whose conditional-activation rules are validated by a SHACL schema for the imple...

Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis

Human genetic variation and multiomics biomarker translation has emerged as a rapidly developing research field at the intersection of molecular medicine, bioinformatics, and clinical decision‐making. This study used bibliometric methods to map its global structure, intellectual base, and thematic evolution. The eligib...

Interpreting human genetic variation at atomic resolution.

SVlog: a logic programming framework for understanding structural variation in genomic disease

Structural variants (SVs) are a diverse group of genetic variants defined by a minimum size of 50 base pairs. SVs account for the majority of all variant bases in a person’s genome and are commonly implicated in inherited disease and cancer. However, SV analysis is complex due to their wide variation in type and size,...

Assessing the Reliability of LLM-Generated Phenotype-Genotype Associations Through External Validation

Background Phenotype-genotype associations underpin precision medicine by enabling disease prevention, early diagnosis, risk stratification, therapeutic target discovery, and personalized treatment. However, the rapid growth of scientific evidence has made manual curation of these associations increasingly labor-intens...