AIMC Topic: Penetrance

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Machine learning-based penetrance of genetic variants.

Science (New York, N.Y.) Aug 28, 2025
Accurate variant penetrance estimation is crucial for precision medicine. We constructed machine learning (ML) models for 10 diseases using 1,347,298 participants with electronic health records, then applied them to an independent cohort with linked ...
Electronic Health Records Genetic Predisposition to Disease Machine Learning Precision Medicine Penetrance Loss of Function Mutation Genetic Variation Exome Humans
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Prediction of Incident Heart Failure in TTR Val122Ile Carriers One Year Ahead of Diagnosis in a Multiethnic Biobank.

The American journal of cardiology Dec 18, 2020
ROC Curve Area Under Curve Incidence Heart Failure Biological Specimen Banks Mutation Hispanic or Latino Humans Machine Learning Electronic Health Records Case-Control Studies Clinical Decision Rules Penetrance Amyloid Neuropathies, Familial Black or African American Prealbumin Cardiomyopathies
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Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.

Molecular autism Mar 15, 2016
BACKGROUND: Intellectual disability (ID), autism, and epilepsy share frequent yet variable comorbidities with one another. In order to better understand potential genetic divergence underlying this variable risk, we studied genes responsible for mono...
Intellectual Disability Nerve Tissue Proteins Body Patterning Epilepsy Chromatin Assembly and Disassembly Protein Interaction Maps Gene Expression Regulation Databases, Genetic Penetrance Genetic Association Studies Autistic Disorder Autism Spectrum Disorder Gene Ontology Syndrome Humans Epigenomics Comorbidity Neurogenesis Cell Nucleus Risk Nuclear Proteins
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Validation of a Semiautomated Natural Language Processing-Based Procedure for Meta-Analysis of Cancer Susceptibility Gene Penetrance.

JCO clinical cancer informatics Aug 1, 2019
PURPOSE: Quantifying the risk of cancer associated with pathogenic mutations in germline cancer susceptibility genes-that is, penetrance-enables the personalization of preventive management strategies. Conducting a meta-analysis is the best way to ob...
Workflow Penetrance Natural Language Processing Biomarkers, Tumor Humans Neoplasms Algorithms Genetic Predisposition to Disease Reproducibility of Results Computational Biology
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