Clinical Genetics | Medical Genetics Approximating facial expression effects on diagnostic accuracy via generative AI in medical genetics. June 28, 2024
Clinical Genetics | Genetics Critical assessment of missense variant effect predictors on disease-relevant variant data. June 19, 2024
Clinical Genetics | Genetics Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort. June 3, 2024
Clinical Genetics | Genomics | Oncology Deep Learning Model for Tumor Type Prediction using Targeted Clinical Genomic Sequencing Data. February 28, 2024
Clinical Genetics | Molecular Biology | Oncology Rational thresholding of circulating tumor DNA concentration for improved surveillance of metastatic breast cancer. February 6, 2024
Bioinformatics | Clinical Genetics | Natural Language Processing An evaluation of GPT models for phenotype concept recognition. January 31, 2024
Clinical Genetics | Cytogenetics | Genetics Chromosome classification via deep learning and its application to patients with structural abnormalities of chromosomes. November 20, 2023
Artificial Intelligence | Clinical Genetics | Rare Diseases Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations. August 3, 2023
Bioinformatics | Clinical Genetics | Genetics The landscape of tolerated genetic variation in humans and primates. May 19, 2023
Clinical Genetics | Cytogenetics An Open Dataset of Annotated Metaphase Cell Images for Chromosome Identification. February 23, 2023
Clinical Genetics | Genetics | Neurology | Pediatrics The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. February 6, 2023
Clinical Genetics | Neurology Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services. August 10, 2022