AIMC Topic: Exome Sequencing

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Explainable deep learning for stratified medicine in inflammatory bowel disease.

Genome biology Jul 24, 2025
Moving from a one-size-fits-all to an individual approach in precision medicine requires a deeper understanding of disease molecular mechanisms. Especially in heterogeneous complex diseases such as inflammatory bowel disease (IBD), better molecular s...
Precision Medicine Inflammatory Bowel Diseases Deep Learning Exome Sequencing Humans Neural Networks, Computer
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Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery.

Nature communications Jul 10, 2025
While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we use artificial intelligence ...
Genotype Treatment Outcome Whole Genome Sequencing Humans Prospective Studies Cardiac Surgical Procedures Heart Defects, Congenital Infant Forecasting Female Exome Sequencing Child, Preschool Infant, Newborn Child Male
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Whole‑exome evolutionary profiling of osteosarcoma uncovers metastasis‑related driver mutations and generates an independently validated predictive classifier.

Journal of translational medicine Jul 7, 2025
BACKGROUND: Osteosarcoma is the most common primary malignant bone tumor, with high invasiveness and metastatic potential and a poor prognosis in patients with metastatic cancer. Despite the rapid advancements in genomics in recent years that provide...
Female Reproducibility of Results Adult Male Humans Exome Adolescent Evolution, Molecular Osteosarcoma Mutation Bone Neoplasms Neoplasm Metastasis Exome Sequencing
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Validation of an AI-enabled exome/transcriptome liquid biopsy platform for early detection, MRD, disease monitoring, and therapy selection for solid tumors.

Scientific reports Jul 1, 2025
Effective clinical management of patients with cancer requires highly accurate diagnosis, precise therapy selection, and highly sensitive monitoring of disease burden. Caris Assure is a multifunctional blood-based assay that couples whole exome and w...
Transcriptome Early Detection of Cancer Liquid Biopsy Exome Sequencing Middle Aged Neoplasms Gene Expression Profiling Neoplasm, Residual Exome Humans Artificial Intelligence Machine Learning Female Adult Male
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GNNMutation: a heterogeneous graph-based framework for cancer detection.

BMC bioinformatics Jun 4, 2025
BACKGROUND: When genes are translated into proteins, mutations in the gene sequence can lead to changes in protein structure and function as well as in the interactions between proteins. These changes can disrupt cell function and contribute to the d...
Exome Sequencing Algorithms Neoplasms Computational Biology Mutation Humans Neural Networks, Computer
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TET2 gene mutation status associated with poor prognosis of transition zone prostate cancer: a retrospective cohort study based on whole exome sequencing and machine learning models.

Frontiers in endocrinology Apr 14, 2025
BACKGROUND: Prostate cancer (PCa) in the transition zone (TZ) is uncommon and often poses challenges for early diagnosis, but its genomic determinants and therapeutic vulnerabilities remain poorly characterized.
Dioxygenases Biomarkers, Tumor Male Machine Learning Humans Mutation Middle Aged Prognosis DNA-Binding Proteins Prostatic Neoplasms Retrospective Studies Exome Sequencing Aged Proto-Oncogene Proteins
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Optimizing sequence data analysis using convolution neural network for the prediction of CNV bait positions.

BMC bioinformatics Dec 24, 2024
BACKGROUND: Accurate prediction of copy number variations (CNVs) from targeted capture next-generation sequencing (NGS) data relies on effective normalization of read coverage profiles. The normalization process is particularly challenging due to hid...
Humans Neural Networks, Computer Data Analysis Algorithms Sequence Analysis, DNA DNA Copy Number Variations High-Throughput Nucleotide Sequencing Exome Sequencing
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A deep learning model for prediction of autism status using whole-exome sequencing data.

PLoS computational biology Nov 8, 2024
Autism is a developmental disability. Research demonstrated that children with autism benefit from early diagnosis and early intervention. Genetic factors are considered major contributors to the development of autism. Machine learning (ML), includin...
Exome Computational Biology Autistic Disorder Humans Exome Sequencing Neural Networks, Computer Deep Learning Multifactorial Inheritance Child Genetic Predisposition to Disease
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Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Journal of the American Heart Association Jun 15, 2024
BACKGROUND: Familial hypercholesterolemia (FH), while highly prevalent, is a significantly underdiagnosed monogenic disorder. Improved detection could reduce the large number of cardiovascular events attributable to poor case finding. We aimed to ass...
Apolipoprotein B-100 Receptors, LDL Predictive Value of Tests Adult Hyperlipoproteinemia Type II Humans Male Mutation United Kingdom Machine Learning Middle Aged Genetic Testing Exome Sequencing Female Genetic Predisposition to Disease Proprotein Convertase 9
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Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.

Nature genetics Jun 11, 2024
Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico score for CAD built using machine learning and clinical data in electronic health records captures disea...
Machine Learning Female Humans Polymorphism, Single Nucleotide Genome-Wide Association Study Exome Sequencing Coronary Artery Disease Genetic Predisposition to Disease Genetic Variation Exome
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