Multimodal AI/ML for discovering novel biomarkers and predicting disease using multi-omics profiles of patients with cardiovascular diseases
Cardiovascular diseases (CVDs) are complex, multifactorial conditions that require
personalized assessment and treatment. Advancements in multi-omics technologies …
personalized assessment and treatment. Advancements in multi-omics technologies …
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …
The 2022 Nucleic Acids Research database issue and the online molecular biology database collection
DJ Rigden, XM Fernández - Nucleic acids research, 2022 - academic.oup.com
Abstract The 2022 Nucleic Acids Research Database Issue contains 185 papers, including
87 papers reporting on new databases and 85 updates from resources previously published …
87 papers reporting on new databases and 85 updates from resources previously published …
The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution
Artificial intelligence (AI) platforms have emerged as pivotal tools in genetics and molecular
medicine, as in many other fields. The growth in patient data, identification of new diseases …
medicine, as in many other fields. The growth in patient data, identification of new diseases …
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
D Rots, A Bouman, A Yamada, M Levy… - The American Journal of …, 2024 - cell.com
The shift to a genotype-first approach in genetic diagnostics has revolutionized our
understanding of neurodevelopmental disorders, expanding both their molecular and …
understanding of neurodevelopmental disorders, expanding both their molecular and …
Mouse Genome Informatics: an integrated knowledgebase system for the laboratory mouse
RM Baldarelli, CL Smith, M Ringwald, JE Richardson… - Genetics, 2024 - academic.oup.com
Abstract Mouse Genome Informatics (MGI) is a federation of expertly curated information
resources designed to support experimental and computational investigations into genetic …
resources designed to support experimental and computational investigations into genetic …
Depletion of the paternal gut microbiome alters sperm small RNAs and impacts offspring physiology and behavior in mice
BA Masson, P Kiridena, D Lu, EA Kleeman… - Brain, Behavior, and …, 2025 - Elsevier
The paternal environment prior to conception has been demonstrated to influence offspring
physiology and behavior, with the sperm epigenome (including noncoding RNAs) proposed …
physiology and behavior, with the sperm epigenome (including noncoding RNAs) proposed …
SpliceTransformer predicts tissue-specific splicing linked to human diseases
N You, C Liu, Y Gu, R Wang, H Jia, T Zhang… - Nature …, 2024 - nature.com
Abstract We present SpliceTransformer (SpTransformer), a deep-learning framework that
predicts tissue-specific RNA splicing alterations linked to human diseases based on …
predicts tissue-specific RNA splicing alterations linked to human diseases based on …
Diagnostic accuracy of a custom large language model on rare pediatric disease case reports
Accurately diagnosing rare pediatric diseases frequently represent a clinical challenge due
to their complex and unusual clinical presentations. Here, we explore the capabilities of …
to their complex and unusual clinical presentations. Here, we explore the capabilities of …
[HTML][HTML] A corpus of GA4GH Phenopackets: case-level phenoty** for genomic diagnostics and discovery
Summary The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema
was released in 2022 and approved by ISO as a standard for sharing clinical and genomic …
was released in 2022 and approved by ISO as a standard for sharing clinical and genomic …