AIMC Topic: Genes, Recessive

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Gene pathogenicity prediction of Mendelian diseases via the random forest algorithm.

Human genetics May 8, 2019
The study of Mendelian diseases and the identification of their causative genes are of great significance in the field of genetics. The evaluation of the pathogenicity of genes and the total number of Mendelian disease genes are both important questi...
Humans Machine Learning Algorithms ROC Curve Genetic Predisposition to Disease Genetic Diseases, Inborn Genes, Dominant Genes, Recessive
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Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification.

Journal of medical genetics Oct 20, 2025
BACKGROUND: Autosomal dominant (AD) inheritance often arises through haploinsufficiency, dominant-negative or gain of function (GoF) effects, while autosomal recessive (AR) inheritance generally results from partial or complete loss of function (LoF)...
Humans Phenotype Genetic Predisposition to Disease Genetic Association Studies Computational Biology Gene Ontology Haploinsufficiency Genes, Dominant Genes, Recessive
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