AIMC Topic: Penetrance

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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
Humans Machine Learning Electronic Health Records Case-Control Studies Incidence ROC Curve Area Under Curve Mutation Hispanic or Latino Heart Failure Biological Specimen Banks Black or African American Prealbumin Cardiomyopathies Penetrance Amyloid Neuropathies, Familial Clinical Decision Rules
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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...
Humans Autism Spectrum Disorder Comorbidity Protein Interaction Maps Genetic Association Studies Epigenomics Nuclear Proteins Databases, Genetic Nerve Tissue Proteins Epilepsy Syndrome Cell Nucleus Gene Expression Regulation Autistic Disorder Risk Gene Ontology Neurogenesis Intellectual Disability Body Patterning Chromatin Assembly and Disassembly Penetrance
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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...
Humans Algorithms Reproducibility of Results Biomarkers, Tumor Neoplasms Genetic Predisposition to Disease Computational Biology Natural Language Processing Workflow Penetrance
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