4 citations · 5 across the 2 of their papers we have counts for
2 papers
q-bio.QM2024★ 1 cited
Assessing the Utility of Large Language Models for Phenotype-Driven Gene Prioritization in Rare Genetic Disorder Diagnosis
Junyoung Kim, Jingye Yang, Kai Wang +2
Phenotype-driven gene prioritization is a critical process in the diagnosis of rare genetic disorders for identifying and ranking potential disease-causing genes based on observed…
q-bio.QM2023★ 4 cited
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Text
Da Wu, Zhanliang Wang, Hongzhuo Chen +12
Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests, and genetic tests over a prolonged period of time,…