Literature DB >> 19597467

Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.

A de la Chapelle1.   

Abstract

The two alleles of a gene can be expressed at different levels, the extreme example being imprinting, a condition in which one allele is totally suppressed. Recently, subtle differences in the expression of the two alleles have been detected in numerous human genes and in a few cases, have been associated with a genetic predisposition to disease. The underlying mechanisms are largely unexplored.

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Year:  2009        PMID： 19597467      PMCID： PMC4348697          DOI： 10.1038/onc.2009.194

Source DB:  PubMed          Journal:  Oncogene        ISSN： 0950-9232            Impact factor:   9.867


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10.  Feasibility of predicting allele specific expression from DNA sequencing using machine learning.

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Journal:  Sci Rep       Date:  2021-05-19       Impact factor: 4.379
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