Cover Image

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts

Fuente: arXiv

Saved in:

Bibliographic Details
Main Authors:	Wu, Da, Yang, Jingye, Liu, Cong, Hsieh, Tzung-Chien, Marchi, Elaine, Blair, Justin, Krawitz, Peter, Weng, Chunhua, Chung, Wendy, Lyon, Gholson J., Krantz, Ian D., Kalish, Jennifer M., Wang, Kai
Format:	Preprint
Published:	2023
Subjects:	Quantitative Methods Computer Vision and Pattern Recognition Machine Learning Multimedia Genomics
Online Access:	Acceder al recurso
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization
by: Liu, Tianyu, et al.
Published: (2026)

A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases
by: Rajeev Dutta, et al.
Published: (2025)

Knowledge Graph Sparsification for GNN-based Rare Disease Diagnosis
by: Cara, Premt, et al.
Published: (2025)

Population-Specific Genetic and Non-Genetic Influences on Sleep Traits and Health Outcomes
by: Park, Jiheum, et al.
Published: (2026)

RareCollab: an LLM-powered framework for multimodal reasoning in Mendelian disease diagnosis
by: Qi, Guantong, et al.
Published: (2026)

Deep Learning and Explainable AI: New Pathways to Genetic Insights
by: Wang, Chenyu, et al.
Published: (2025)

A Chromosome-level Assembly and Functional Genomic Resources for the Model Annelid Capitella teleta.
by: Davies, Billie E, et al.
Published: (2026)

Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options
by: Adelaide Ballerini, et al.
Published: (2025)

Genetic Features for Drug Responses in Cancer -- Investigating an Ensemble-Feature-Selection Approach
by: Schlüter, Johannes, et al.
Published: (2025)

Genetic diversity of barley accessions and their response under abiotic stresses using different approaches
by: Lateef, Djshwar Dhahir, et al.
Published: (2024)

Assessing the Utility of Large Language Models for Phenotype-Driven Gene Prioritization in Rare Genetic Disorder Diagnosis
by: Kim, Junyoung, et al.
Published: (2024)

Securing the Language of Life: Inheritable Watermarks from DNA Language Models to Proteins
by: Zhang, Zaixi, et al.
Published: (2025)

Correction to “Phenotypic and Genetic Characteristics of 24 Cases of Early Infantile Epileptic Encephalopathy in East China, Including a Rare Case of Biallelic UGDH Mutations”
Published: (2025)

Genetic architecture of phenological, morphological, and phytochemical traits in Cannabis landraces
by: Mehdi Babaei, et al.
Published: (2026)

Genetic and transcriptomic analysis of lentil seed imbibition and dormancy in relation to its domestication
by: Azalea Guerra‐García, et al.
Published: (2025)

Genetic analysis and molecular mapping of the purple leaf sheath in barley ( Hordeum vulgare )
by: Demeke B. Mewa, et al.
Published: (2025)

Chromosome-Level Genome Assembly and Annotation of the Japanese Cutlassfish (Trichiurus japonicus): A High-Quality Genomic Resource Featuring Nuclear and Mitochondrial Completeness for Future Studies.
by: Hsu, Po-Cheng, et al.
Published: (2025)

Fungal Genetic Variants in Oceanic Environments
by: Davenport, Sade A., et al.
Published: (2025)

Genetic components associated with R2 and R4 powdery mildew resistance in hop
by: Klara Hajdu, et al.
Published: (2026)

Phenotypic plasticity in maize grain yield: Genetic and environmental insights of response to environmental gradients
by: Fatma Ozair, et al.
Published: (2025)

Genetic control of wheat flour end‐use quality and rheology by genome‐wide association studies
by: Juan Menor de Gaspar, et al.
Published: (2026)

Genetic dissection of plant architecture, development, and seed morphology in exotic × elite Upland cotton populations
by: Hrithik Mangla, et al.
Published: (2026)

Genetic identification and characterization of novel loci for flag leaf morphology traits in Chinese endemic wheat
by: Md Nahibuzzaman Lohani, et al.
Published: (2026)

Genetic dissection of crown rust resistance in oat and the identification of key adult plant resistance genes
by: Nikwan Shariatipour, et al.
Published: (2025)

Genetic analysis of predicted vegetative biomass and biomass‐related traits from digital phenotyping of strawberry
by: Cheryl Dalid, et al.
Published: (2025)

Genetic control of root architectural traits under drought stress in spring barley ( Hordeum vulgare L.)
by: Md. Nurealam Siddiqui, et al.
Published: (2024)

Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa
by: He‐nan Sun, et al.
Published: (2025)

Genetic mapping of a chickpea ( Cicer arietinum L.) diversity panel for mineral biofortification towards human nutrition
by: Sonia Salaria, et al.
Published: (2025)

Genetic mapping and haplotype analysis identify novel candidate genes for high night temperature tolerance in winter wheat
by: Dinesh Kumar Saini, et al.
Published: (2025)

Genetic diversity and population structure of jute mallow ( Corchorus olitorius L.) global collection to guide conservation and breeding
by: Abdul J. Shango, et al.
Published: (2026)

A New Framework for Explainable Rare Cell Identification in Single-Cell Transcriptomics Data
by: Su, Di, et al.
Published: (2026)

Genetic dissection of the root system architecture QTLome and its relationship with early shoot development, breeding and adaptation in durum wheat
by: Giuseppe Sciara, et al.
Published: (2025)

Genetic improvement of FHB and DON resistance by combining the Fhb1 gene with additional resistance QTL in winter wheat population
by: Anjan Neupane, et al.
Published: (2025)

Integrating Chain-of-Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis from Clinical Notes
by: Wang, Zhanliang, et al.
Published: (2025)

Modeling Gene Expression Distributional Shifts for Unseen Genetic Perturbations
by: Ramakrishnan, Kalyan, et al.
Published: (2025)

Genetic architecture of anthocyanin pigment traits and purple spot ( Stemphylium vesicarium ) resistance in an F 1 pseudo‐testcross population of asparagus
by: Suman Parajuli, et al.
Published: (2025)

Supplementary information for "Factors influencing the accuracy and precision in dating single gene trees"
by: Louvel, Guillaume, et al.
Published: (2024)

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection
by: Li‐min Cui, et al.
Published: (2025)

Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review
by: Yulai Kang, et al.
Published: (2024)

DNA Language Model and Interpretable Graph Neural Network Identify Genes and Pathways Involved in Rare Diseases
by: Saadat, Ali, et al.
Published: (2024)