Qiang Liu

Genetic Transformer: An Innovative Large Language Model Driven Approach for Rapid and Accurate Identification of Causative Variants in Rare Genetic Diseases

This paper introduces Genetic Transformer (GeneT), an LLM-driven method that significantly reduces candidate variant numbers and improves recall in rare disease diagnosis.

Incidental identification of maternal malignancies in two Asian women underwent noninvasive prenatal test

This study reports two cases of maternal malignancies detected incidentally during noninvasive prenatal tests in Asian women, showing concordant genome disruption patterns between tumor samples and NIPT results.