Genetics | Molecular Biology | Neurology Deep learning modeling of rare noncoding genetic variants in human motor neurons defines as a therapeutic target for ALS. April 18, 2024
Clinical Laboratory | Genomics | Medical Genetics Applications of artificial intelligence in clinical laboratory genomics. July 28, 2023
Genetics | Neurology Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. July 17, 2023
Bioinformatics | Genetics Toward Identification of Functional Sequences and Variants in Noncoding DNA. June 1, 2023
Bioinformatics | Genetics The Impact of Stability Considerations on Genetic Fine-Mapping. April 24, 2023
Genomic Medicine Explainable AI for Estimating Pathogenicity of Genetic Variants Using Large-Scale Knowledge Graphs. February 25, 2023
Bioinformatics | Genetics | Otolaryngology Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome. February 13, 2023
Genetics Deep learning identified genetic variants for COVID-19-related mortality among 28,097 affected cases in UK Biobank. January 24, 2023
Biochemistry | Molecular Biology Off the deep end: what can deep learning do for the gene expression field? December 3, 2022
Genetics | Pediatric Oncology Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing. November 17, 2022
Bioinformatics | Genetics | Ophthalmology Single-cell multiome of the human retina and deep learning nominate causal variants in complex eye diseases. October 25, 2022
Bioinformatics | Disease Pathogenesis | Genetics | Molecular Biology RMDisease V2.0: an updated database of genetic variants that affect RNA modifications with disease and trait implication. September 5, 2022